Research ExplorerJournalsJ INHERIT METAB DIS Publications

J INHERIT METAB DIS - Journal of inherited metabolic disease

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Publications

  1. 2024

  2. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

    KAMPER and PKUDOS investigators, 07.2024, In: J INHERIT METAB DIS. 47, 4, p. 636-650 15 p.

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

  3. 2023

  4. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

    Maier, E. M., Mütze, U., Janzen, N., Steuerwald, U., Nennstiel, U., Odenwald, B., Schuhmann, E., Lotz-Havla, A. S., Weiss, K. J., Hammersen, J., Weigel, C., Thimm, E., Grünert, S. C., Hennermann, J. B., Freisinger, P., Krämer, J., Das, A. M., Illsinger, S., Gramer, G., Fang-Hoffmann, J., Garbade, S. F., Okun, J. G., Hoffmann, G. F., Kölker, S. & Röschinger, W., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1043-1062 20 p.

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

  5. 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

  6. Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study

    Guffon, N., Konstantopoulou, V., Hennermann, J. B., Muschol, N., Bruno, I., Tummolo, A., Ceravolo, F., Zardi, G., Ballabeni, A. & Lund, A., 07.2023, In: J INHERIT METAB DIS. 46, 4, p. 705-719 15 p.

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

  7. 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

  8. Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

    Mütze, U., Garbade, S. F., Gleich, F., Lindner, M., Freisinger, P., Hennermann, J. B., Thimm, E., Gramer, G., Posset, R., Krämer, J., Grünert, S. C., Hoffmann, G. F. & Kölker, S., 01.2023, In: J INHERIT METAB DIS. 46, 1, p. 15-27 13 p.

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

  9. 2022

  10. 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

  11. A personalized medicine approach for phenylketonuria patients

    Gundorova, P., Danecka, M. K., Woidy, M. & Gersting, S. W., 16.08.2022, In: J INHERIT METAB DIS. 45, S1, p. 473 SSIEM22-2133.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  12. Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

    Kluck, R., Müller, S., Jagodzinski, C., Hohenfellner, K., Büscher, A., Kemper, M. J., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Kanzelmeyer, N., Pavičić, L., Haffner, D. & Zivicnjak, M., 03.2022, In: J INHERIT METAB DIS. 45, 2, p. 192-202 11 p.

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

  13. 2021

  14. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

    Brennenstuhl, H., Nashawi, M., Schröter, J., Baronio, F., Beedgen, L., Gleich, F., Jeltsch, K., von Landenberg, C., Martini, S., Simon, A., Thiel, C., Tsiakas, K., Opladen, T., Kölker, S., Hoffmann, G. F., Haas, D. & Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN), 09.2021, In: J INHERIT METAB DIS. 44, 5, p. 1272-1287 16 p.

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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 2020

  21. High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots

    Brennenstuhl, H., Kohlmüller, D., Gramer, G., Garbade, S. F., Syrbe, S., Feyh, P., Kölker, S., Okun, J. G., Hoffmann, G. F. & Opladen, T., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 602-610 9 p.

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

  22. 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

  23. 2019

  24. 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

  25. Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

    Pilotto, A., Blau, N., Leks, E., Schulte, C., Deuschl, C., Zipser, C., Piel, D., Freisinger, P., Gramer, G., Kölker, S., Haas, D., Burgard, P., Nawroth, P., Georg, H., Scheffler, K., Berg, D. & Trefz, F., 05.2019, In: J INHERIT METAB DIS. 42, 3, p. 398-406 9 p.

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

  26. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi-Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., González-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G., Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C. C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H., Zeyda, M. & individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), 01.2019, In: J INHERIT METAB DIS. 42, 1, p. 128-139 12 p.

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

  27. 2018

  28. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

    Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., 11.2018, In: J INHERIT METAB DIS. 41, 6, p. 1225-1233 9 p.

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

  29. Inborn errors of metabolism and the human interactome: a systems medicine approach

    Woidy, M., Muntau, A. C. & Gersting, S. W., 05.2018, In: J INHERIT METAB DIS. 41, 3, p. 285-296 12 p.

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

  30. 2017

  31. 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

  32. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    Boy, N., Mühlhausen, C., Maier, E. M., Heringer, J., Assmann, B., Burgard, P., Dixon, M., Fleissner, S., Greenberg, C. R., Harting, I., Hoffmann, G. F., Karall, D., Koeller, D. M., Krawinkel, M. B., Okun, J. G., Opladen, T., Posset, R., Sahm, K., Zschocke, J., Kölker, S. & Additional individual contributors, 05.01.2017, In: J INHERIT METAB DIS. 40, 1, p. 75-101

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

  33. 2016

  34. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Teles, E. L., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., Kölker, S. & additional individual contributors of the E-IMD consortium, 01.09.2016, In: J INHERIT METAB DIS. 39, 5, p. 661-72

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

  35. Genetic cause and prevalence of hydroxyprolinemia

    Staufner, C., Haack, T. B., Feyh, P., Gramer, G., Raga, D. E., Terrile, C., Sauer, S., Okun, J. G., Fang-Hoffmann, J., Mayatepek, E., Prokisch, H., Hoffmann, G. F. & Kölker, S., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 625-632 8 p.

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

  36. 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

  37. S-Adenosylhomocysteine alters methylation of cellular RNA

    Barroso, M., 11.08.2016, In: J INHERIT METAB DIS. 39, S1

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  38. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

    Jamiolkowski, D., Kölker, S., Glahn, E. M., Barić, I., Zeman, J., Baumgartner, M. R., Mühlhausen, C., Garcia-Cazorla, A., Gleich, F., Haege, G., Burgard, P. & E-IMD consortium, 18.02.2016, In: J INHERIT METAB DIS. 39, 2, p. 231-241

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

  39. Impact of age at onset and newborn screening on outcome in organic acidurias

    Heringer, J., Valayannopoulos, V., Lund, A. M., Wijburg, F. A., Freisinger, P., Barić, I., Baumgartner, M. R., Burgard, P., Burlina, A. B., Chapman, K. A., I Saladelafont, E. C., Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J. H., Zeman, J., Chabrol, B., Kölker, S. & additional individual contributors of the E-IMD consortium, 2016, In: J INHERIT METAB DIS. 39, 3, p. 341-353

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

  40. 2015

  41. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1041-1057

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

  42. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Cazorla, A. G., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1059-1074

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

  43. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

    Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides-Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M. & Baumgartner, M. R., 09.2015, In: J INHERIT METAB DIS. 38, 5, p. 957-967 10 p.

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

  44. 2014

  45. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

    Feillet, F., Muntau, A. C., Debray, F-G., Lotz-Havla, A. S., Puchwein-Schwepcke, A., Fofou-Caillierez, M. B., van Spronsen, F. & Trefz, F. F., 01.09.2014, In: J INHERIT METAB DIS. 37, 5, p. 753-62 10 p.

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

  46. Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

    Muntau, A. C., Leandro, J., Staudigl, M., Mayer, F. & Gersting, S. W., 01.07.2014, In: J INHERIT METAB DIS. 37, 4, p. 505-23 19 p.

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

  47. 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

  48. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

    Lampe, C., Bosserhoff, A-K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., 05.03.2014, In: J INHERIT METAB DIS. 37, 5, p. 823-829

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

  49. Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life

    Gramer, G., Haege, G., Glahn, E. M., Hoffmann, G. F., Lindner, M. & Burgard, P., 03.2014, In: J INHERIT METAB DIS. 37, 2, p. 189-95 7 p.

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

  50. 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

  51. 2013

  52. Cellular hypomethylation promotes endothelial cell activation

    Barroso, M., Florindo, C., Tavares de Almeida, I., Castro, R., Loscalzo, J. & Brigham, C. D. O., 24.07.2013, In: J INHERIT METAB DIS. 36, 1 Supplement

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  53. Diagnosing mucopolysaccharidosis IVA

    Wood, T. C., Harvey, K., Beck, M., Burin, M. G., Chien, Y-H., Church, H. J., D'Almeida, V., van Diggelen, O. P., Fietz, M., Giugliani, R., Harmatz, P., Hawley, S. M., Hwu, W-L., Ketteridge, D., Lukacs, Z., Miller, N., Pasquali, M., Schenone, A., Thompson, J. N., Tylee, K., Yu, C. & Hendriksz, C. J., 01.03.2013, In: J INHERIT METAB DIS. 36, 2, p. 293-307 15 p.

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

  54. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

    Boy, N., Haege, G., Heringer, J., Assmann, B., Mühlhausen, C., Ensenauer, R., Maier, E. M., Lücke, T., Hoffmann, G. F., Müller, E., Burgard, P. & Kölker, S., 2013, In: J INHERIT METAB DIS. 36, 3, p. 525-533 3.

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

  55. 2012

  56. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

    Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A. & Prokisch, H., 11.2012, In: J INHERIT METAB DIS. 35, 6, p. 943-8 6 p.

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

  57. 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

  58. 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

  59. 2011

  60. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

    Groeschel, S., Kehrer, C., Engel, C., I Dali, C., Bley, A., Steinfeld, R., Grodd, W. & Krägeloh-Mann, I., 10.2011, In: J INHERIT METAB DIS. 34, 5, p. 1095-102 8 p.

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

  61. Diagnosis and management of glutaric aciduria type I--revised recommendations.

    Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Angels, G. C., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2011, In: J INHERIT METAB DIS. 34, 3, p. 677-694 3.

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

  62. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

    Gal, A., Hughes, D. A. & Winchester, B., 2011, In: J INHERIT METAB DIS. 34, 2, p. 509-514 2.

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

  63. 2010

  64. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

    Muntau, A. C. & Gersting, S. W., 12.2010, In: J INHERIT METAB DIS. 33, 6, p. 649-58 10 p.

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

  65. 2009

  66. Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control

    Lindner, M., Gramer, G., Garbade, S. F. & Burgard, P., 08.2009, In: J INHERIT METAB DIS. 32, 4, p. 514-22 9 p.

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

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