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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

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Metadaten
Document Type:Article
Language:English
Author:Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David Thorburn, Jan A. M. Smeitink, Eva Morava, Ron A. Wevers
Parent Title (English):Journal of Inherited Metabolic Disease
Volume:36
Issue:6
First Page:913
Last Page:921
ISSN:0141-8955
DOI:https://doi.org/10.1007/s10545-012-9579-6
PMID:https://pubmed.ncbi.nlm.nih.gov/23355087
Publisher:Springer Netherlands
Place of publication:Dordrecht
Date of first publication:2013/01/25
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18