Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers

INTRODUCTION: Various markers, such as C14:1 and the C14:1/C2 ratio, are used as diagnostic markers of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). However, the levels of these markers in patients with VLCADD overlap with those in heterozygous carriers and even healthy subjects. MATER...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Yamada, Kenji, Osawa, Yoshimitsu, Kobayashi, Hironori, Hasegawa, Yuki, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895747/
https://ncbi.nlm.nih.gov/pubmed/31844625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100535
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