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The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13
One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for β oxidation spiral pathway's initial step, the...
Autores principales: | Alotaibi, Maha, Alqasmi, Amal, Albassam, Faisal, Alkahtani, Turki, Alqahtany, Muath, Alkhaldi, Mohammed |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564565/ https://www.ncbi.nlm.nih.gov/pubmed/37822418 http://dx.doi.org/10.1055/s-0043-1775979 |
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