Article
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Saudi medical journal - 1 Jun 2020
Alhashem Amal, Mohamed Sarar, Abdelraheem Manal, AlGufaydi Bushra, Al-Aqeel Aida
Abstract excerpt
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 Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from 2000 to 2019. Demographic, clinical, and laboratory...
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