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Molecular and clinical characteristics of very long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia

OBJECTIVES: To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. METHODS: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at (Genetic/Metabolic Section), Prince Su...

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Detalles Bibliográficos
Autores principales: Alhashem, Amal, Mohamed, Sarar, Abdelraheem, Manal, AlGufaydi, Bushra, Al-Aqeel, Aida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502945/
https://www.ncbi.nlm.nih.gov/pubmed/32518924
http://dx.doi.org/10.15537/smj.2020.6.25131