J INHERIT METAB DIS - Journal of inherited metabolic disease
Publications
- 2024
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
Feillet, F., Ficicioglu, C., Lagler, F. B., Longo, N., Muntau, A. C., Burlina, A., Trefz, F. K., van Spronsen, F. J., Arnoux, J-B., Lindstrom, K., Lilienstein, J., Clague, G. E., Rowell, R., Burton, B. K., KAMPER investigators & 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
- 2023
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
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
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
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
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
- 2022
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
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
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
- 2021
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
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
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
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
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
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
- 2020
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
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
- 2019
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
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
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
- 2018
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
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
- 2017
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
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. 75-101Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
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. 661-72Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
S-Adenosylhomocysteine alters methylation of cellular RNA
Barroso, M., 11.08.2016, In: J INHERIT METAB DIS. 39, S1Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
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. 231-241Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 341-353Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2015
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. 1041-1057Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 1059-1074Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2014
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
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
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. 775-781Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 823-829Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
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
- 2013
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 SupplementResearch output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
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
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
- 2012
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
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
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
- 2011
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
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
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
- 2010
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
- 2009
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