Title: | Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD : a new inborn error of metabolism with potential treatment |
Journal : | Journal of inherited metabolic disease, 34, 1 |
Authors: | Bosch AM ; Abeling NGGM ; Ijlst L ; Knoester H ; van der Pol WL ; Stroomer AEM ; Wanders RJ ; Visser G ; Wijburg FA ; Duran M ; Waterham HR |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 159-164 |
Languages: | English |
Keywords : | acyl-CoA dehydrogenase deficiency ; basal metabolism ; case studies ; déficit en transporteur de riboflavine ; energetic supplementation ; genetic analysis ; genetic mutations ; muscle weakness ; rat ; skeletal muscle ; vitamin B2 |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21110228 |
Pubmed / DOI : | DOI : 10.1007/s10545-010-9242-z |