Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 72 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency;International Journal of Neonatal Screening;2020-07-28
2. Detection of allele frequencies of common c. 511c>t and c.625g>a variants in the acads gene in the turkish population;The Turkish Journal of Pediatrics;2020
3. Disorders of lipid metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
4. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms;Journal of Inherited Metabolic Disease;2017-05-17
5. Microcephaly and developmental delay caused by short-chain acyl-coa dehydrogenase deficiency;The Turkish Journal of Pediatrics;2017
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