| 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
|
| 巻 | 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
|
| 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 |
[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. |
