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

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Use this link to cite this item : https://ir.lib.shimane-u.ac.jp/52856

language	eng
Author	YAMADA, Kenji Osawa, Yoshimitsu Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan　/　Department of Pediatrics, Graduate School of Medicine, Gunma University, 3-39-22, Showa-machi, Maebashi, Gunma 371-8511, Japan Kobayashi, Hironori HASEGAWA, Yuki FUKUDA, Seiji Yamaguchi, Seiji Taketani, Takeshi
Subject	Very long-chain acyl-CoA dehydrogenase deficiency; Tetradecenoyl carnitine; Dodecenoyl carnitine; Heterozygous carrier; Newborn screening; Diagnostic markers
Journal Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	21
ISSN（Online）	2214-4269
Published Date	2019-12
DOI	10.1016/j.ymgmr.2019.100535
PubMed ID	31844625
Publisher	ELSEVIER
NII Type	Journal Article
OAI-PMH Set	Faculty of Medicine
Remark	This report was partially supported by AMED (grant number JP17ek0109276) and JSPS KAKENHI (grant numbers 16K21179 and 19K08300). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.