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-Reference-Cited by-同舟云学术

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

Published:2012-06-30 Issue:1 Volume:9 Page:42-66
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Cheon Chong Kun¹,Choi Hyung Soon²,Kim Su-Yung¹,Yoo Han-Wook³,Kim Gu-Hwan³

Affiliation:

1. Department of Pediatrics, College of Medicine, Medical Research Institute, Pusan National University, Children's Hospital, Yangsan, Korea

2. Department of Pediatrics, Kosin University Gospel Hospital, Busan, Korea

3. Department of Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2012/009/JGM-9-042.pdf

Reference16 articles.

1. Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

2. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

3. Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

4. Short-chain acyl-coenzyme A dehydrogenase deficiency

5. Moczulski D, Majak I, Mamczur D. An overview of beta-oxidation disorders. Postepy Hig Med Dosw (Online) 2009;63:266-277.

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1. Compound heterozygous mutations ofACADSgene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review;Korean Journal of Pediatrics;2016