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 21 巻 2019-12 発行
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タイトル
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
著者
Osawa Yoshimitsu
収録物名
MOLECULAR GENETICS AND METABOLISM REPORTS
21
収録物識別子
EISSN 2214-4269
主題
Very long-chain acyl-CoA dehydrogenase deficiency; Tetradecenoyl carnitine; Dodecenoyl carnitine; Heterozygous carrier; Newborn screening; Diagnostic markers ( その他)
言語
英語
資源タイプ 学術雑誌論文
出版者
ELSEVIER
発行日 2019-12
アクセス権 メタデータのみ
関連情報
[DOI] 10.1016/j.ymgmr.2019.100535
[PMID] 31844625
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.