3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
- Author
- WORTMANN, Saskia B1 ; KLUIJTMANS, Leo A. J2 ; WALTER, Katharina10 ; ALKURAYA, Fowzan S11 12 ; SMUTS, Izelle13 ; REINECKE, Carolus J14 ; VAN DER WESTHUIZEN, Francois H14 ; THORBURN, David15 ; SMEITINK, Jan A. M1 ; MORAVA, Eva1 ; WEVERS, Ron A2 ; RODENBURG, Richard J1 2 ; SASS, Jörn Oliver3 4 ; NOUWS, Jessica1 ; VAN KAAUWEN, Edwin P2 ; KLEEFSTRA, Tjitske5 ; TRANEBJAERG, Lisbeth6 7 ; DE VRIES, Maaike C1 ; ISOHANNI, Pirjo8 9
[1] Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, Netherlands
[2] Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM), Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, Netherlands
[3] Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland
[4] Laboratory of Clinical Biochemistry and Metabolism, University Children's Hospital Freiburg, Freiburg, Germany
[5] Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands
[6] Wilhelm Johannsen Centre of Functional Genomics, ICMM, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
[7] Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
[8] Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
[9] Clinic Group of Pediatric Neurology, Department of Gynecology and Pediatrics, Helsinki University Central Hospital, Helsinki, Finland
[10] Department of Pediatric Cardiology, University Hospital Aachen, Aachen, Germany
[11] College of Medicine, Alfaisal University, Riyad, Saudi Arabia
[12] Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, Riyad, Saudi Arabia
[13] Department of Paediatrics and Child Health, Steve Biko Academic Hospital, University of Pretoria, Totiusdal, Pretoria, South Africa
[14] Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa
[15] Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia - Source
Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 913-921, 9 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acidurie Gène Génétique Homme Malade Maladie héréditaire Maladie métabolique Nutrition Déterminisme génétique
- Keyword (en)
- Aciduria Gene Genetics Human Patient Genetic disease Metabolic diseases Nutrition Genetic determinism
- Keyword (es)
- Aciduria Gen Genética Hombre Enfermo Enfermedad hereditaria Metabolismo patología Nutrición Determinismo genético
- Classification
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 27909819
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-012-9579-6 
https://dx.doi.org/10.1007/s10545-012-9579-6
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