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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
Document Type: | Article |
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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 |