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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...
Autores principales: | Staretz-Chacham, Orna, Amar, Shirly, Almashanu, Shlomo, Pode-Shakked, Ben, Saada, Ann, Wormser, Ohad, Hershkovitz, Eli |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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