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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

MOLECULAR GENETICS AND METABOLISM REPORTS Volume 21 published_at 2019-12

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Title	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
Creator	YAMADA Kenji Osawa Yoshimitsu Kobayashi Hironori HASEGAWA Yuki FUKUDA Seiji Yamaguchi Seiji Taketani Takeshi
Source Title	MOLECULAR GENETICS AND METABOLISM REPORTS
Volume	21
Journal Identifire	EISSN 2214-4269
Subjects	Very long-chain acyl-CoA dehydrogenase deficiency; Tetradecenoyl carnitine; Dodecenoyl carnitine; Heterozygous carrier; Newborn screening; Diagnostic markers ( Other)
Language	eng
Resource Type	journal article
Publisher	ELSEVIER
Date of Issued	2019-12
Access Rights	metadata only access
Relation	[DOI] 10.1016/j.ymgmr.2019.100535 [PMID] 31844625
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.