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

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently i...

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Detalhes bibliográficos
Main Authors: Woo, Hye In, Park, Hyung-Doo, Lee, Yong-Wha, Lee, Dong Hwan, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2011
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3111034/
https://ncbi.nlm.nih.gov/pubmed/21239873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/kjlm.2011.31.1.54
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