- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
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An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH
- KMID: 2362253
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S45-S48.
- doi: 10.3345/kjp.2016.59.11.S45
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in... -
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- Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry
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Cheon CK, Choi HS, Kim SY, Yoo HW, Kim GH
- KMID: 2055570
- J Genet Med.
- 2012 Jun;9(1):42-46.
- doi: 10.5734/JGM.2012.9.1.42
Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay,... -
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