Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamada, Kenji, Osawa, Yoshimitsu, Kobayashi, Hironori, Hasegawa, Yuki, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895747/
https://www.ncbi.nlm.nih.gov/pubmed/31844625
http://dx.doi.org/10.1016/j.ymgmr.2019.100535