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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言語	英語
著者	山田健治 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 小林弘典長谷川有紀福田誠司山口清次竹谷健
主題	Very long-chain acyl-CoA dehydrogenase deficiency; Tetradecenoyl carnitine; Dodecenoyl carnitine; Heterozygous carrier; Newborn screening; Diagnostic markers
掲載誌名	MOLECULAR GENETICS AND METABOLISM REPORTS
巻	21
ISSN（Online）	2214-4269
発行日	2019-12
DOI	10.1016/j.ymgmr.2019.100535
PubMed ID	31844625
出版者	ELSEVIER
資料タイプ	学術雑誌論文
部局	医学部
備考	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.