Research ExplorerScientific StaffRene Santer Publications

Prof. Dr. ID: 71389

Rene Santer

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Publications

  1. 1987

  2. [Rectum and bladder duplication with malformations of the VACTERL association]

    Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-121 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Rektum- und Blasenduplikatur mit Fehlbildungen der VACTERL-Assoziation

    Santer, R. & Schröder, H., 1987, In: KLIN PADIATR. 199, 2, p. 119-21 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. 1989

  5. Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.

    Alliet, P., Lu, R. B., Madrazo de La Garza, J. A., Santer, R., Lebenthal, E. & Lee, P. C., 1989, In: J STEROID BIOCHEM. 33, 6, p. 1097-1102 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. 1990

  7. [Cystic fibrosis and celiac disease. Report of two cases]

    Santer, R. & Harms, H. K., 1990, In: MONATSSCHR KINDERH. 138, 9, p. 623-626 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Effect of thyroxine on the maturation of cholecystokinin (CCK) receptors in pancreatic acini of neonatal rats.

    Leung, Y. K., Srimaruta, N., Santer, R., Lee, P. C. & Lebenthal, E., 1990, In: PANCREAS. 5, 2, p. 210-215 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.

    Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E. & Lebenthal, E., 1990, In: EUR J PEDIATR. 150, 2, p. 111-114 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: alteration of binding data by specific lectins.

    Santer, R., Leung, Y. K., Alliet, P., Lebenthal, E. & Lee, P. C., 1990, In: BBA-BIOMEMBRANES. 1051, 1, p. 78-83 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. 1991

  12. [Brain abnormality within the scope of a VACTERL association]

    Nikischin, W., Krolikowski, I. & Santer, R., 1991, In: MONATSSCHR KINDERH. 139, 6, p. 360-362 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Celiac disease in Down's syndrome.

    Santer, R., Sievers, E. & Oldigs, H. D., 1991, In: J PEDIATR GASTR NUTR. 13, 1, p. 121 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Computed tomography in superior mesenteric artery syndrome.

    Santer, R., Young, C., Rossi, T. & Riddlesberger, M. M., 1991, In: PEDIATR RADIOL. 21, 2, p. 154-155 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Kinetics of the multi-step catalytic degradation of a polymer to its constituent subunits.

    Leung, Y. K., Wong, L. K., Santer, R., Alliet, P. & Lee, P. C., 1991, In: Comput Biomed Res. 24, 3, p. 209-221 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. 1992

  17. Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Rinaldo, P., Bennett, M. J., Santer, R. & Stanley, C. A., 1992, In: Prog Clin Biol Res. 375, p. 355-362

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 1993

  19. Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

    Schmidt-Sommerfeld, E., Penn, D., Duran, M., Bennett, M. J., Santer, R. & Stanley, C. A., 1993, In: J PEDIATR-US. 122(5 Pt 1), p. 708-714

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

    Santer, R., Claviez, A., Oldigs, H. D., Schaub, J., Schutgens, R. B. & Wanders, R. J., 1993, In: EUR J PEDIATR. 152, 4, p. 339-342 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.

    Santer, R., Borlinghaus, P., Sievers, E., Segura, E. & Lamerz, R., 1993, In: ACTA PAEDIATR. 82, 12, p. 1024-1028 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. [Williams-Beuren syndrome in combination with celiac disease]

    Pankau, R., Partsch, C. J., Gosch, A. & Santer, R., 1993, In: MONATSSCHR KINDERH. 141, 7, p. 577-580 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. 1994

  24. Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.

    Krawinkel, M. B., Oldigs, H. D., Santer, R., Lehnert, W., Wendel, U. & Schaub, J., 1994, In: J INHERIT METAB DIS. 17, 5, p. 636-637 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

    Bennett, M. J., Ragni, M. C., Ostfeld, R. J., Santer, R. & Schmidt-Sommerfeld, E., 1994, In: ANN CLIN BIOCHEM. 31, 1, p. 72-77 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.

    Krawinkel, M. B., Santer, R. & Oldigs, H. D., 1994, In: J PEDIATR GASTR NUTR. 19, 4, p. 476-477 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. 1995

  28. Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.

    Santer, R., Claass, A., Krawinkel, M., Schaub, J. & Ruitenbeek, W., 1995, In: J INHERIT METAB DIS. 18, 1, p. 75-76 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Discordance for hyperinsulinemic hypoglycemia in monozygotic twins.

    Santer, R., Hoffmann, H., Suttorp, M., Simeoni, E. & Schaub, J., 1995, In: J PEDIATR-US. 126, 6, p. 1017 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.

    Santer, R., Gregersen, N., Tanaka, K., Hinck-Kneip, C., Krawinkel, M. & Schaub, J., 1995, In: EUR J PEDIATR. 154, 6, p. 497 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. 1996

  32. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

    Wiebusch, H., Funke, H., Santer, R., Richter, W. & Assmann, G., 1996, In: HUM MUTAT. 8, 4, p. 392 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.

    Santer, R., Sievers, E. & Schaub, J., 1996, In: ACTA PAEDIATR. 85, 8, p. 902-905 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Williams-Beuren syndrome and celiac disease.

    Santer, R., Pankau, R., Schaub, J. & Bürgin-Wolff, A., 1996, In: J PEDIATR GASTR NUTR. 23, 3, p. 339-340 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. 1997

  36. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

    Tanaka, K., Gregersen, N., Ribes, A., Kim, J., Kølvraa, S., Winter, V., Eiberg, H., Martinez, G., Deufel, T., Leifert, B., Santer, R., François, B., Pronicka, E., László, A., Kmoch, S., Kremensky, I., Kalaydjicva, L., Ozalp, I. & Ito, M., 1997, In: PEDIATR RES. 41, 2, p. 201-209 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

    Müller, D., Santer, R., Krawinkel, M., Christiansen, B. & Schaub, J., 1997, In: J INHERIT METAB DIS. 20, 4, p. 607-608 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

    Santer, R., Schneppenheim, R., Dombrowski, A., Götze, H., Steinmann, B. & Schaub, J., 1997, In: NAT GENET. 17, 3, p. 324-326 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 1998

  40. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.

    Santer, R., Schneppenheim, R., Suter, D., Schaub, J. & Steinmann, B., 1998, In: EUR J PEDIATR. 157, 10, p. 783-797 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.

    Hufnagel, M., Eichmann, D., Stieh, J. & Santer, R., 1998, In: J CLIN ENDOCR METAB. 83, 6, p. 2215-2216 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism

    Santer, R., Schneppenheim, R., Dombrowski, A., Götze, H., Steinmann, B. & Schaub, J., 06.1998, In: J INHERIT METAB DIS. 21, 3, p. 191-194 4 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. 1999

  44. Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.

    Schewior, S., Brand, M. & Santer, R., 1999, In: J PEDIATR GASTR NUTR. 28, 3, p. 353-354 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus.

    Jonat, S., Santer, R., Schneppenheim, R., Obser, T. & Eggert, P., 1999, In: ARCH DIS CHILD. 81, 1, p. 57-59 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.

    Eichmann, D., Hufnagel, M., Quick, P. & Santer, R., 1999, In: EUR J PEDIATR. 158, 3, p. 204-206 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection.

    Grefer, J., Santer, R., Ankermann, T., Faul, S., Nölle, B. & Eggert, P., 1999, In: PEDIATR NEPHROL. 13, 4, p. 336-339 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. 2000

  49. DiGeorge syndrome with discordant phenotype in monozygotic twins.

    Hillebrand, G., Siebert, R., Simeoni, E. & Santer, R., 2000, In: J MED GENET. 37, 9, p. 23 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Hereditary fructose intolerance and alpha(1) antitrypsin deficiency

    Hillebrand, G., Schneppenheim, R., Oldigs, H. D. & Santer, R., 01.07.2000, In: ARCH DIS CHILD. 83, 1, p. 72-3 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

    Santer, R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub, J. & Schneppenheim, R., 08.2000, In: HUM MUTAT. 16, 2, p. 177 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. 2001

  53. Hyperinsulinism in syndromal disorders.

    Meissner, T., Rabl, W., Mohnike, K., Scholl, S., Santer, R. & Mayatepek, E., 2001, In: ACTA PAEDIATR. 90, 8, p. 856-859 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  54. Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.

    Brendel-Müller, K., Hahn, A., Schneppenheim, R. & Santer, R., 2001, In: PEDIATR NEPHROL. 16, 12, p. 1084-1088 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  55. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.

    Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W. L., Chen, Y. T., Schneppenheim, R. & Schaub, J., 2001, In: EUR J HUM GENET. 9, 5, p. 388-391 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  56. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

    Santer, R., Kinner, M., Passarge, M., Superti-Furga, A., Mayatepek, E., Meissner, T., Schneppenheim, R. & Schaub, J., 2001, In: HUM GENET. 108, 1, p. 66-71 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  57. 2002

  58. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

    Odièvre, M. H., Lombès, A., Dessemme, P., Santer, R., Brivet, M., Chevallier, B., Lagardère, B. & Odièvre, M., 2002, In: J INHERIT METAB DIS. 25, 5, p. 379-384 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  59. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

    Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., Gennip, V., Albert, H., Baas, F., Santer, R., Santer, R., Becker, K. & Barth, P. G., 2002, In: J PEDIATR-US. 141, 5, p. 729-733 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  60. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

    Santer, R., Steinmann, B. & Schaub, J., 2002, In: CURR MOL MED. 2, 2, p. 213-227 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  61. Feeding patterns in breast-fed and formula-fed infants.

    Sievers, E., Oldigs, H-D., Santer, R. & Schaub, J., 2002, In: ANN NUTR METAB. 46, 6, p. 243-248 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  62. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

    Lässker, U., Zschocke, J., Blau, N. & Santer, R., 2002, In: J INHERIT METAB DIS. 25, 1, p. 65-70 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  63. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

    Santer, R., Groth, S., Kinner, M., Dombrowski, A., Berry, G. T., Brodehl, J., Leonard, J. V., Moses, S., Norgren, S., Skovby, F., Schneppenheim, R., Steinmann, B. & Schaub, J., 2002, In: HUM GENET. 110, 1, p. 21-29 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  64. 2003

  65. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

    Santer, R., Hillebrand, G., Steinmann, B. & Schaub, J., 2003, In: GASTROENTEROLOGY. 124, 1, p. 34-39 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  66. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

    Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  67. Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

    Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  68. Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.

    Claviez, A., Horst, H-A., Santer, R. & Suttorp, M., 2003, In: ANN HEMATOL. 82, 4, p. 251-253 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  69. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

    Santer, R., Muhle, H., Suormala, T., Baumgartner, E. R., Duran, M., Yang, X., Aoki, Y., Suzuki, Y. & Stephani, U., 2003, In: MOL GENET METAB. 79, 3, p. 160-166 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  70. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

    Santer, R., Fingerhut, R., Lässker, U., Wightman, P. J., Fitzpatrick, D. R., Olgemöller, B. & Roscher, A. A., 2003, In: CLIN CHEM. 49, 4, p. 660-662 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  71. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

    Schneppenheim, R., Ulrich, B., Oyen, F., Angerhaus, D., Aumann, V., Drewke, E., Hassenpflug, W., Häberle, J., Kentouche, K., Kohne, E., Kurnik, K., Müller-Wiefel, D. E., Obser, T., Santer, R. & Sykora, K-W., 2003, In: BLOOD. 101, 5, p. 1845-1850 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  72. 2004

  73. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

    Ensenauer, R., Vockley, J., Willard, J-M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H-G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., 2004, In: AM J HUM GENET. 75, 6, p. 1136-1142 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  74. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

    Gordon, M. M., Brada, N., Remacha, A., Badell, I., Elisabeth, D. R., Baiget, M., Santer, R., Quadros, E. V., Rothenberg, S. P. & Alpers, D. H., 2004, In: HUM MUTAT. 23, 1, p. 85-91 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  75. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

    Peduto, A., Spada, M., Alluto, A., La Dolcetta, M., Ponzone, A. & Santer, R., 2004, In: J INHERIT METAB DIS. 27, 2, p. 279-280 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  76. Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

    Scholl-Bürgi, S., Santer, R. & Ehrich, J. H. H., 2004, In: NEPHROL DIAL TRANSPL. 19, 9, p. 2394-2396 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  77. Nephrolithiasis in a child with glucose-galactose malabsorption.

    Tasic, V., Slaveska, N., Blau, N. & Santer, R., 2004, In: PEDIATR NEPHROL. 19, 2, p. 244-246 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  78. The boy with massive glucosuria.

    Sarkissian, A., Santer, R., Steinmann, B., Amaryan, G. & Leumann, E., 2004, In: NEPHROL DIAL TRANSPL. 19, 5, p. 1319-1320 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  79. Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

    Meissner, T., Mayatepek, E., Kinner, M. & Santer, R., 2004, In: CLIN CHIM ACTA. 341, 1-2, p. 23-26 1-2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  80. 2005

  81. A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

    van Diggelen, O. P., Voznyi, Y. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R. & Harzer, K., 2005, In: J INHERIT METAB DIS. 28, 5, p. 733-741 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  82. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  83. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

    Berry, G. T., Baynes, J. W., Wells-Knecht, K. J., Szwergold, B. S. & Santer, R., 2005, In: MOL GENET METAB. 86, 4, p. 473-477 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  84. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

    Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, E., Santer, R., Propping, P. & Friedl, W., 2005, In: HUM MUTAT. 26, 6, p. 513-519 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  85. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  86. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

    Ferrari, G., Lamantea, E., Donati, A., Filosto, M., Briem, E., Carrara, F., Parini, R., Simonati, A., Santer, R. & Zeviani, M., 2005, In: BRAIN. 128, 4, p. 723-731 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  87. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

    Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H-G., Steinmann, B. & Schneppenheim, R., 2005, In: HUM MUTAT. 25, 6, p. 594 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  88. 2006

  89. Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

    Furlan, F., Santer, R., Vismara, E., Santus, F., Sersale, G., Menni, F. & Parini, R., 2006, In: J INHERIT METAB DIS. 29, 5, p. 685 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  90. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

    Hartwig, C., Gal, A., Santer, R., Ullrich, K., Finckh, U. & Kreienkamp, H-J., 2006, In: FEBS LETT. 580, 14, p. 3489-3492 14.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  91. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

    Lukacs, Z. & Santer, R., 2006, In: MOL NUTR FOOD RES. 50, 4-5, p. 443-450 4-5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  92. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

    Freisinger, P., Fütterer, N., Lankes, E., Gempel, K., Berger, T. M., Spalinger, J., Hoerbe, A., Schwantes, C., Lindner, M., Santer, R., Burdelski, M., Schaefer, H., Setzer, B., Walker, U. A. & Horváth, R., 2006, In: ARCH NEUROL-CHICAGO. 63, 8, p. 1129-1134 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  93. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

    Stadler, S. C., Polanetz, R., Maier, E. M., Heidenreich, S. C., Niederer, B., Mayerhofer, P. U., Lagler, F., Koch, H-G., Santer, R., Fletcher, J. M., Ranieri, E., Das, A. M., Spiekerkötter, U., Schwab, K. O., Pötzsch, S., Marquardt, I., Hennermann, J. B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A. C., Roscher, A. A. & Röschinger, W., 2006, In: HUM MUTAT. 27, 8, p. 748-759 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  94. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

    Horvath, R., Hudson, G., Ferrari, G., Fütterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmüller, H., McFarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M. & Chinnery, P. F., 2006, In: BRAIN. 129, 7, p. 1674-1684 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  95. 2007

  96. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

    Paesold-Burda, P., Baumgartner, M. R., Santer, R., Bosshard, N. U. & Steinmann, B., 2007, In: J INHERIT METAB DIS. 30, 6, p. 896-902 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  97. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

    Hoffman, T. L., Blanco, E., Lane, A., Galvin-Parton, P., Gadi, I., Santer, R., DeLeón, D., Stanley, C. & Wilson, T. A., 2007, In: CLIN GENET. 71, 6, p. 551-557 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  98. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

    Schilling, A., Mülhausen, C., Lehmann, W., Santer, R., Schinke, T., Rueger, J. M. & Amling, M., 2007, In: OSTEOPOROSIS INT. 18, 5, p. 659-669 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  99. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Sivia, D. G., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., Rizzo, C., Piemonte, F., Rodenburg, R., Santer, R., Santorelli, F. M., van Rooij, A., Diana, V. K., Morava, E. & Wevers, R. A., 2007, In: BRAIN. 130, 3, p. 862-874 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  100. 2008

  101. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

    Engel, K., Nuoffer, J-M., Mühlhausen, C., Klaus, V., Largiadèr, C. R., Tsiakas, K. K., Santer, R., Wermuth, B. & Häberle, J., 2008, In: MOL GENET METAB. 94, 3, p. 292-297 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  102. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  103. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    Schumacher, U., Lukacs, Z., Kaltschmidt, C., Freudlsperger, C., Schulz, D., Kompisch, K., Müller, R., Rudolph, T. K., Santer, R., Lorke, D. & Ullrich, K., 2008, In: NEUROBIOL DIS. 32, 3, p. 385-390 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  104. Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.

    Martin-Subero, J. I., Bibikova, M., Mackay, D., Wickham-Garcia, E., Sellami, N., Richter, J., Santer, R., Caliebe, A., Fan, J-B., Temple, I. K. & Siebert, R., 2008, In: AM J MED GENET A. 146, 24, p. 3227-3229 24.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  105. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    Jäggi, L., Zurflüh, M. R., Schuler, A., Ponzone, A., Porta, F., Fiori, L., Giovannini, M., Santer, R., Hoffmann, G. F., Ibel, H., Wendel, U., Ballhausen, D., Baumgartner, M. R. & Blau, N., 2008, In: MOL GENET METAB. 93, 3, p. 295-305 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  106. Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

    Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J. & Santer, R., 2008, In: NEUROPEDIATRICS. 39, 1, p. 51-54 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  107. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

    Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J. & Santer, R., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3874-3879 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  108. 2009

  109. Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.

    Buchert, R., Santer, R., Brenner, W., Apostolova, I., Mester, J., Clausen, M. & Silverman, D. H. S., 2009, In: NUKLEARMED-NUCL MED. 48, 1, p. 44-54 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  110. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

    Lukacs, Z., Paulina, N. C., Mengel, E., Hartung, R., Beck, M., Deschauer, M., Keil, A. & Santer, R., 2009, In: J INHERIT METAB DIS.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  111. Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children

    Morava, E., Steuerwald, U., Carrozzo, R., Kluijtmans, LA., Joensen, F., Santer, R., Dionisi-Vici, C. & Wevers, RA., 2009, In: MITOCHONDRION. 9, 6, p. 438-442 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  112. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

    Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  113. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

    Kohlschütter, B., Ellerbrok, M., Merkel, M., Tchirikov, M., Zschocke, J., Santer, R. & Ullrich, K., 2009, In: J INHERIT METAB DIS.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  114. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

    Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  115. 2010

  116. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

    Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  117. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-760 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  118. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-766 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  119. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

    Spiekerkoetter, U., Haussmann, U., Mueller, M., Frank, T. V., Stehn, M., Santer, R. & Lukacs, Z., 2010, In: J PEDIATR-US. 157, 4, p. 668-673 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  120. 2011

  121. Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

    Lukacs, Z., Nieves Cobos, P. A., Keil, A., Hartung, R., Mengel, E., Beck, M., Deschauer, M., Hanisch, F. & Santer, R., 2011, In: CLIN BIOCHEM. 44, 7, p. 476 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  122. Fanconi-Bickel syndrome and fertility.

    von Schnakenburg, C. & Santer, R., 2011, In: AM J MED GENET A. 155A, 10, p. 2607 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  123. Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.

    Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  124. Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung

    Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  125. Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

    Kędzierska, K., Kwiatkowski, S., Torbé, A., Marchelek-Myśliwiec, M., Marcinkiewicz, O., Bobrek-Lesiakowska, K., Gołembiewska, E., Kwiatkowska, E., Rzepka, R., Ciechanowski, K., Czajka, R. & Santer, R., 2011, In: AM J MED GENET A. 155A, 8, p. 2028-2030 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  126. Effect of kidney disease on glucose handling (including genetic defects)

    Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  127. 2012

  128. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

    Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W. & Baumgartner, M. R., 2012, In: ORPHANET J RARE DIS. 7, p. 31

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  129. A child with night blindness: preventing serious symptoms of Refsum disease.

    Kohlschütter, A., Santer, R., Lukacs, Z., Altenburg, C., Kemper, M. J. & Rüther, K., 2012, In: J CHILD NEUROL. 27, 5, p. 654-656 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  130. Glyceroluria and neonatal hemochromatosis.

    Barić, I., Zibar, K., Ćorić, M., Santer, R., Bonilla, S., Bilić, K., Buljević, A. D., Benjak, V., Fumić, K. & Whitington, P. F., 2012, In: J PEDIATR GASTR NUTR. 55, 4, p. 126-128 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  131. Mutation analysis in 54 propionic acidemia patients.

    Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 51-63 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  132. Propionic acidemia: neonatal versus selective metabolic screening.

    Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 41-49 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  133. Suggested guidelines for the diagnosis and management of urea cycle disorders

    Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  134. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

    Grünert, S. C., Schwab, K. O., Pohl, M., Sass, J. O. & Santer, R., 01.03.2012, In: MOL GENET METAB. 105, 3, p. 433-437 5 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  135. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

    Gramer, G., Wolf, N. I., Vater, D., Bast, T., Santer, R., Kamsteeg, E-J., Wevers, R. A. & Ebinger, F., 01.06.2012, In: NEUROPEDIATRICS. 43, 3, p. 168-171 4 p., 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  136. 2013

  137. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H-G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  138. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

    Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A., Nuoffer, J-M., Parini, R., Read, M-H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. & Salomons, G. S., 04.04.2013, In: AM J HUM GENET. 92, 4, p. 627-31 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  139. Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

    Afroze, B., Yunus, Z., Steinmann, B. & Santer, R., 01.09.2013, In: EUR J PEDIATR. 172, 9, p. 1249-53 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  140. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

    Kollmann, K., Pestka, J-M., Kühn, S. C., Schöne, E., Schweizer, M., Karkmann, K., Otomo, T., Catala-Lehnen, P., Failla, A. V., Marshall, R. P., Krause, M., Santer, R., Amling, M., Braulke, T. & Schinke, T., 01.12.2013, In: EMBO MOL MED. 5, 12, p. 1871-86 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  141. 2014

  142. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

    Rüegger, C. M., Lindner, M., Ballhausen, D., Baumgartner, M. R., Beblo, S., Das, A., Gautschi, M., Glahn, E. M., Grünert, S. C., Hennermann, J., Hochuli, M., Huemer, M., Karall, D., Kölker, S., Lachmann, R. H., Lotz-Havla, A., Möslinger, D., Nuoffer, J-M., Plecko, B., Rutsch, F., Santer, R., Spiekerkoetter, U., Staufner, C., Stricker, T., Wijburg, F. A., Williams, M., Burgard, P. & Häberle, J., 01.01.2014, In: J INHERIT METAB DIS. 37, 1, p. 21-30 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  143. Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation

    Fortugno, P., Josselin, E., Tsiakas, K., Agolini, E., Cestra, G., Teson, M., Santer, R., Castiglia, D., Novelli, G., Dallapiccola, B., Kurth, I., Lopez, M., Zambruno, G. & Brancati, F., 27.02.2014, In: J INVEST DERMATOL. 134, 8, p. 2146-2153

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  144. Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

    Albers, K., Schlein, C., Wenner, K., Lohse, P., Bartelt, A., Heeren, J., Santer, R. & Merkel, M., 01.03.2014, In: ATHEROSCLEROSIS. 233, 1, p. 97-103 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  145. CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

    Barvencik, F., Kurth, I., Koehne, T., Stauber, T., Zustin, J., Tsiakas, K., Ludwig, C. F., Beil, F. T., Pestka, J-M., Hahn, M., Santer, R., Supanchart, C., Kornak, U., Del Fattore, A., Jentsch, T. J., Teti, A., Schulz, A., Schinke, T. & Amling, M., 01.04.2014, In: J BONE MINER RES. 29, 4, p. 982-91 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  146. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

    Mühlhausen, C., Salomons, G. S., Lukacs, Z., Struys, E. A., van der Knaap, M. S., Ullrich, K. & Santer, R., 01.04.2014, In: J INHERIT METAB DIS. 37, 5, p. 775-781

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  147. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature

    Grabhorn, E., Tsiakas, K., Herden, U., Fischer, L., Freisinger, P., Marquardt, T., Ganschow, R., Briem-Richter, A. & Santer, R., 01.04.2014, In: LIVER TRANSPLANT. 20, 4, p. 464-72 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  148. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

    Cobos, P. N., Steglich, C., Santer, R., Lukacs, Z. & Gal, A., 06.05.2014, In: JIMD reports.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  149. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho de Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., Mandel, H., Bliksrud, Y. T., Freisinger, P., Aldamiz-Echevarria, L. J., Hochuli, M., Gautschi, M., Endig, J., Jordan, J., McKiernan, P., Ernst, S., Morlot, S., Vogel, A., Sander, J. & Das, A. M., 01.08.2014, In: ORPHANET J RARE DIS. 9, p. 107

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  150. Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie

    Kehl, T., Tsiakas, K., Mühlhausen, C., Santer, R., C, W., Dr. von der Wense, A. & Singer, D., 12.2014, In: Z GEBURTSH NEONATOL. 218, 06, p. 269-270

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  151. 2015

  152. Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

    Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  153. Hippocampal synaptic connectivity in phenylketonuria

    Horling, K., Schlegel, G., Schulz, S., Vierk, R., Ullrich, K., Santer, R. & Rune, G., 15.02.2015, In: HUM MOL GENET. 4, 24, p. 1007-1018

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  154. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

    Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., Smeitink, J. A. M., Morava, E., Kozicz, T., Wevers, R. A., Wolf, N. I. & Willemsen, M. A., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 98-103 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  155. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation

    Hermann, K., Varwig-Janßen, D., Budnik, L. T., Nordholt, G., Reinshagen, K., Oh, J., Santer, R. & Mühlhausen, C., 04.2015, In: MONATSSCHR KINDERH. 163, 6, p. 570-574

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  156. A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

    Fazeli, W., Kaczmarek, S., Kirschstein, M. & Santer, R., 28.07.2015, In: BMC GASTROENTEROL. 15, p. Art. 90

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  157. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

    Klünder, S., Heeren, J., Markmann, S., Santer, R., Braulke, T. & Pohl, S., 08.2015, In: J LIPID RES. 56, 8, p. 1625-32 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  158. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

    Park, J. H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A. L., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., Innes, A. M., Hörtnagel, K., Biskup, S., Gleixner, E. M., Kurlemann, G., Fiedler, B., Omran, H., Rutsch, F., Wada, Y., Tsiakas, K., Santer, R., Nebert, D. W., Rust, S. & Marquardt, T., 03.12.2015, In: AM J HUM GENET. 97, 6, p. 894-903 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  159. 2016

  160. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

    Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  161. TMEM165 Deficiency: Postnatal Changes in Glycosylation

    Althoff, S. S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R. & Marquardt, T., 2016, JIMD Reports. 1 ed. Springer, Vol. 26. p. 21-29 9 p. (JIMD Reports; vol. 26).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  162. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

    Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. & Haack, T. B., 04.02.2016, In: AM J HUM GENET. 98, p. 358-362

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  163. Phenylketonuria: Direct and indirect effects of phenylalanine

    Schlegel, G., Scholz, R., Ullrich, K., Santer, R. & Rune, G. M., 14.04.2016, In: EXP NEUROL. 281, p. 28-36 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  164. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

    Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  165. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

    Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R. & Barić, I., 01.09.2016, In: J PEDIATR ENDOCR MET. 29, 9, p. 1083-8

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  166. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

    Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  167. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

    Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  168. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  169. 2017

  170. MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

    Coady, M. J., El Tarazi, A., Santer, R., Bissonnette, P., Sasseville, L. J., Calado, J., Lussier, Y., Dumayne, C., Bichet, D. G. & Lapointe, J-Y., 01.2017, In: J AM SOC NEPHROL. 28, 1, p. 85-93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  171. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  172. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

    Grünert, S. C., Schlatter, S. M., Schmitt, R. N., Gemperle-Britschgi, C., Mrázová, L., Balcı, M. C., Bischof, F., Çoker, M., Das, A. M., Demirkol, M., de Vries, M., Gökçay, G., Häberle, J., Uçar, S. K., Lotz-Havla, A. S., Lücke, T., Roland, D., Rutsch, F., Santer, R., Schlune, A., Staufner, C., Schwab, K. O., Mitchell, G. A. & Sass, J. O., 07.2017, In: MOL GENET METAB. 121, 3, p. 206-215 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  173. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

    Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A. & Santer, R., 08.07.2017, In: MITOCHONDRION.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  174. Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

    du Moulin, M., Thies, B., Blohm, M., Oh, J., Kemper, M. J., Santer, R. & Mühlhausen, C., 12.07.2017, In: JIMD reports.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  175. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

    Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  176. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

    Böhringer, J., Santer, R., Schumacher, N., Gieseke, F., Cornils, K., Pechan, M., Kustermann-Kuhn, B., Handgretinger, R., Schöls, L., Harzer, K., Krägeloh-Mann, I. & Müller, I., 31.07.2017, In: HUM MUTAT. 38, 11, p. 1511-1520

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  177. The first case of domino-split-liver transplantation in maple syrup urine disease

    Herden, U., Li, J., Fischer, L., Brinkert, F., Blohm, M., Santer, R., Nashan, B. & Grabhorn, E., 09.2017, In: PEDIATR TRANSPLANT. 21, 6

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  178. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

    Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., 12.2017, In: ANN NEUROL. 82, 6, p. 1004-1015 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  179. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

    Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., De Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J-M., Polic, B., Santer, R., Weinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 13.12.2017, In: J INHERIT METAB DIS.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  180. 2018

  181. Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

    Holsten, T., Tsiakas, K., Kordes, U., Bison, B., Pietsch, T., Rutkowski, S., Santer, R. & Schüller, U., 03.2018, In: CHILD NERV SYST. 34, 3, p. 581-584 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  182. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

    Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  183. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  184. 2019

  185. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  186. Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

    Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  187. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

    Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  188. Paralog Studies Augment Gene Discovery: DDX and DHX Genes

    Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  189. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

    Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  190. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

    Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  191. 2020

  192. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

    Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  193. Hip Morphology in Mucolipidosis Type II

    Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  194. Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series

    Dahlke, C., Heidepriem, J., Kobbe, R., Santer, R., Koch, T., Fathi, A., Ly, M. L., Schmiedel, S., Seeberger, P. H., ID-UKE COVID-19 study group, Addo, M. M. & Loeffler, F., 17.04.2020, In: medRxiv.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  195. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

    Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 540-548 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  196. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  197. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  198. 2021

  199. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  200. SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

    Pfefferle, S., Günther, T., Kobbe, R., Czech-Sioli, M., Nörz, D., Santer, R., Oh, J., Kluge, S., Oestereich, L., Peldschus, K., Indenbirken, D., Huang, J., Grundhoff, A., Aepfelbacher, M., Knobloch, J. K., Lütgehetmann, M. & Fischer, N., 01.2021, In: CLIN MICROBIOL INFEC. 27, 1, p. 130.e5-130.e8

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  201. Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

    Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  202. Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series

    Heidepriem, J., Dahlke, C., Kobbe, R., Santer, R., Koch, T., Fathi, A., Seco, B. M. S., Ly, M. L., Schmiedel, S., Schwinge, D., Serna, S., Sellrie, K., Reichardt, N. C., Seeberger, P. H., Addo, M. M., Loeffler, F. F. & ID-UKE COVID-19 study group, 06.04.2021, In: PATHOGENS. 10, 4, 438.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  203. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study

    Märtner, E. M. C., Maier, E. M., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Santer, R., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer-Seifert, J., Lenz, D., Hoffmann, G. F., Mühlhausen, C., Ensenauer, R., Garbade, S. F., Kölker, S. & Boy, N., 05.2021, In: J INHERIT METAB DIS. 44, 3, p. 629-638 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  204. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

    Kuseyri Hübschmann, O., Mohr, A., Friedman, J., Manti, F., Horvath, G., Cortès-Saladelafont, E., Mercimek-Andrews, S., Yildiz, Y., Pons, R., Kulhánek, J., Oppebøen, M., Koht, J. A., Podzamczer-Valls, I., Domingo-Jimenez, R., Ibáñez, S., Alcoverro-Fortuny, O., Gómez-Alemany, T., de Castro, P., Alfonsi, C., Zafeiriou, D. I., López-Laso, E., Guder, P., Santer, R., Honzík, T., Hoffmann, G. F., Garbade, S. F., Sivri, H. S., Leuzzi, V., Jeltsch, K., García-Cazorla, A., Opladen, T., Harting, I. & International Working Group on Neurotransmitter Related Disorders (iNTD), 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 1070-1082 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  205. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

    Mütze, U., Henze, L., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Blessing, H., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, T., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Keller, M., Walter, M., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 857-870 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  206. The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

    Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  207. Congenital disorders of glycosylation with defective fucosylation

    Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C. & Wortmann, S. B., 08.2021, In: J INHERIT METAB DIS. 44, 6, p. 1441-1452 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  208. A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

    Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S. & Baumann, U., 17.09.2021, In: CHILDREN-BASEL. 8, 9, 819.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  209. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  210. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

    Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  211. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  212. The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes

    Langer, S., Waterstradt, R., Hillebrand, G., Santer, R. & Baltrusch, S., 12.2021, In: DIABETOLOGIA. 64, 12, p. 2687-2700 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  213. 2022

  214. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism

    Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.

    Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review

  215. Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive

    Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  216. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

    Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  217. Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

    Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  218. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

    Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. B., 08.2022, In: GENET MED. 24, 8, p. 1781-1788 8 p.

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  219. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

    Kuseyri Hübschmann, O., Juliá-Palacios, N. A., Olivella, M., Guder, P., Zafeiriou, D. I., Horvath, G., Kulhánek, J., Pearson, T. S., Kuster, A., Cortès-Saladelafont, E., Ibáñez, S., García-Jiménez, M. C., Honzík, T., Santer, R., Jeltsch, K., Garbade, S. F., Hoffmann, G. F., Opladen, T. & García-Cazorla, Á., 08.2022, In: ANN NEUROL. 92, 2, p. 292-303 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  220. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

    Bölsterli, B. K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A. L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F. M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J. A., Prokisch, H. & Wortmann, S. B., 31.08.2022, In: NUTRIENTS. 14, 17, 3605.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  221. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

    Grohmann-Held, K., Burgard, P., Baerwald, C. G. O., Beblo, S., Vom Dahl, S., Das, A., Dokoupil, K., Fleissner, S., Freisinger, P., Heddrich-Ellerbrok, M., Jung, A., Korpel, V., Krämer, J., Lier, D., Maier, E. M., Meyer, U., Mühlhausen, C., Newger, M., Och, U., Plöckinger, U., Rosenbaum-Fabian, S., Rutsch, F., Santer, R., Schick, P., Schwarz, M., Spiekerkötter, U., Strittmatter, U., Thiele, A. G., Ziagaki, A., Mütze, U., Gleich, F., Garbade, S. F. & Kölker, S., 11.2022, In: J INHERIT METAB DIS. 45, 6, p. 1070-1081 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  222. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

    Scharre, S., Posset, R., Garbade, S. F., Gleich, F., Seidl, M. J., Druck, A-C., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & E-IMD consortium, 11.2022, In: ANN CLIN TRANSL NEUR. 9, 11, p. 1715-1726 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  223. Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    Kožich, V., Schwahn, B. C., Sokolová, J., Křížková, M., Ditroi, T., Krijt, J., Khalil, Y., Křížek, T., Vaculíková-Fantlová, T., Stibůrková, B., Mills, P., Clayton, P., Barvíková, K., Blessing, H., Sykut-Cegielska, J., Dionisi-Vici, C., Gasperini, S., García-Cazorla, Á., Haack, T. B., Honzík, T., Ješina, P., Kuster, A., Laugwitz, L., Martinelli, D., Porta, F., Santer, R., Schwarz, G. & Nagy, P., 12.2022, In: REDOX BIOL. 58, p. 102517

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  224. 2023

  225. The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

    Park, J. H., Nordström, U., Tsiakas, K., Keskin, I., Elpers, C., Mannil, M., Heller, R., Nolan, M., Alburaiky, S., Zetterström, P., Hempel, M., Schara-Schmidt, U., Biskup, S., Steinacker, P., Otto, M., Weishaupt, J., Hahn, A., Santer, R., Marquardt, T., Marklund, S. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  226. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany

    Murko, S., Aseman, A. D., Reinhardt, F., Gramer, G., Okun, J. G., Mütze, U. & Santer, R., 01.2023, In: JIMD reports. 64, 1, p. 114-120 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  227. Effects of Infantile Hypophosphatasia on Human Dental Tissue

    Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  228. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium

    Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y-H., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E., Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 03.2023, In: J INHERIT METAB DIS. 46, 2, p. 220-231 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  229. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency

    Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  230. Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems

    Murko, S., Gramer, G. & Santer, R., 04.2023, In: Kinder- und Jugendarzt. 54, 4, p. 234-246

    Research output: SCORING: Contribution to journal › Training articles › Education › peer-review

  231. Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  232. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

    Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  233. Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

    Murko, S., Peschka, M., Tsiakas, K., Schulz-Jürgensen, S., Herden, U. & Santer, R., 06.2023, In: MOL GENET METAB REP. 35, p. 100977

    Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

  234. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

    Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  235. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  236. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

    Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  237. 2024

  238. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

    Mütze, U., Ottenberger, A., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Vom Dahl, S., Weinhold, N., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T., Behne, R., Haas, D., Spiekerkoetter, U., Hoffmann, G. F., Garbade, S. F., Grünert, S. C. & Kölker, S., 04.2024, In: ANN CLIN TRANSL NEUR. 11, 4, p. 883-898 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review