J INHERIT METAB DIS - Journal of inherited metabolic disease
Publications
- 2009
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)
HOS Investigators, 08.2009, In: J INHERIT METAB DIS. 32, 4, p. 534-43 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria
Gramer, G., Garbade, S. F., Blau, N. & Lindner, M., 02.2009, In: J INHERIT METAB DIS. 32, 1, p. 52-57 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Epilepsy and inborn errors of metabolism in children.
Wolf, N. I., García-Cazorla, A. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 609-617 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inborn errors of metabolism and motor disturbances in children.
García-Cazorla, A., Wolf, N. I., Serrano, M., Pérez-Dueñas, B., Pineda, M., Campistol, J., Fernández-Alvarez, E., Colomer, J., DiMauro, S. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 618-629 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Mental retardation and inborn errors of metabolism.
García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 5, p. 597-608 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Tetrahydrobiopterin deficiency in human rabies.
Willoughby, R. E., Opladen, T., Maier, T., Rhead, W., Schmiedel, S., Hoyer, J., Drosten, C., Rupprecht, C. E., Hyland, K. & Hoffmann, G. F., 2009, In: J INHERIT METAB DIS. 32, 1, p. 65-72 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2008
Apoprotein A-V: An important regulator of triglyceride metabolism
Kluger, M. A., Heeren, J. & Merkel, M., 01.04.2008, In: J INHERIT METAB DIS. 31, 2, p. 281-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Rohard, I., Schaefer, E., Kampmann, C., Beck, M. & Gal, A., 2008, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.
Khneisser, I., Adib, S., Megarbane, A. & Lukacs, Z., 2008, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Membrane translocation of glutaric acid and its derivatives.
Mühlhausen, C., Burckhardt, B., Hagos, Y., Burckhardt, G., Keyser, B., Lukacs, Z., Ullrich, K. & Braulke, T., 2008, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Molecular analysis of the GlcNac-1-phosphotransferase.
Braulke, T., Pohl, S. & Storch, S., 2008, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2007
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
Gramer, G., Burgard, P., Garbade, S. F. & Lindner, M., 08.2007, In: J INHERIT METAB DIS. 30, 4, p. 556-562 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
Lukacs, Z., Hartung, R., Beck, M., Keil, A. & Mengel, E., 2007, In: J INHERIT METAB DIS. 30, 4, p. 614 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas, D., Garbade, S. F., Vohwinkel, C., Muschol, N., Trefz, F. K., Penzien, J. M., Zschocke, J., Hoffmann, G. F. & Burgard, P., 2007, In: J INHERIT METAB DIS. 30, 3, p. 375-387 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2006
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
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
Ries, M., Schaefer, E., Lührs, T., Mani, L., Kuhn, J., Vanier, M. T., Krummenauer, F., Gal, A., Beck, M. & Mengel, E., 2006, In: J INHERIT METAB DIS. 29, 5, p. 647-652 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2005
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
Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Baehner, F., Schmiedeskamp, C., Krummenauer, F., Miebach, E., Bajbouj, M., Whybra, C., Kohlschütter, A., Kampmann, C. & Beck, M., 2005, In: J INHERIT METAB DIS. 28, 6, p. 1011-1017 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M. & Mengel, E., 2005, In: J INHERIT METAB DIS. 28, 5, p. 803-805 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2004
Animal models for glutaryl-CoA dehydrogenase deficiency
Koeller, D. M., Sauer, S., Wajner, M., de Mello, C. F., Goodman, S. I., Woontner, M., Mühlhausen, C., Okun, J. G. & Kölker, S., 2004, In: J INHERIT METAB DIS. 27, 6, p. 813-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
Mühlhausen, C., Hoffmann, G. F., Strauss, K. A., Kölker, S., Okun, J. G., Greenberg, C. R., Naughten, E. R. & Ullrich, K., 2004, In: J INHERIT METAB DIS. 27, 6, p. 885-92 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
Mühlhausen, C., Ergün, S., Strauss, K. A., Koeller, D. M., Crnic, L., Woontner, M., Goodman, S. I., Ullrich, K. & Braulke, T., 2004, In: J INHERIT METAB DIS. 27, 6, p. 829-34 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2003
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K. & Lukacs, Z., 2003, In: J INHERIT METAB DIS. 26, 7, p. 713-714 2 p., 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2002
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
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
- 1998
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
- 1997
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
- 1995
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
- 1994
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