Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogen...

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Detalles Bibliográficos
Autores principales: Goh, Liuh Ling, Lee, Yingshan, Tan, Ee Shien, Lim, James Soon Chuan, Lim, Chia Wei, Dalan, Rinkoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883299/
https://www.ncbi.nlm.nih.gov/pubmed/29615056
http://dx.doi.org/10.1186/s12920-018-0356-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883299/
https://www.ncbi.nlm.nih.gov/pubmed/29615056
http://dx.doi.org/10.1186/s12920-018-0356-8

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