Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency-Reference-Cited by-同舟云学术

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

Published:2011-01-01 Issue:1 Volume:31 Page:54-60
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Woo Hye In¹,Park Hyung-Doo¹,Lee Yong-Wha²,Lee Dong Hwan³,Ki Chang-Seok¹,Lee Soo-Youn¹,Kim Jong-Won¹

Affiliation:

1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Department of Laboratory Medicine & Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea

3. Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/kjlm.2011.31.1.54

Reference24 articles.

1. Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

2. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

3. The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

4. Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany)

5. Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

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