Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

Background: Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in Saudi Arab...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122013/
https://ncbi.nlm.nih.gov/pubmed/28980192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_58
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