Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused by a deficiency of the electron-transfer flavoprotein (ETF) or the electron-transfer flavoprotein dehydrogenase (ETFDH). There are three phenotypes of the disease, two neonatal forms and one late...

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Detalles Bibliográficos
Autores principales: Staretz-Chacham, Orna, Amar, Shirly, Almashanu, Shlomo, Pode-Shakked, Ben, Saada, Ann, Wormser, Ohad, Hershkovitz, Eli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393905/
https://www.ncbi.nlm.nih.gov/pubmed/34440319
http://dx.doi.org/10.3390/genes12081140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393905/
https://www.ncbi.nlm.nih.gov/pubmed/34440319
http://dx.doi.org/10.3390/genes12081140

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