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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.
Yamada, Kenji; Osawa, Yoshimitsu; Kobayashi, Hironori; Hasegawa, Yuki; Fukuda, Seiji; Yamaguchi, Seiji; Taketani, Takeshi.
Affiliation
  • Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
  • Osawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
  • Kobayashi H; Department of Pediatrics, Graduate School of Medicine, Gunma University, 3-39-22, Showa-machi, Maebashi, Gunma 371-8511, Japan.
  • Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
  • Fukuda S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
  • Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
  • Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
Mol Genet Metab Rep ; 21: 100535, 2019 Dec.
Article in En | MEDLINE | ID: mdl-31844625
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2019 Document type: Article Affiliation country: Japón Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2019 Document type: Article Affiliation country: Japón Country of publication: Estados Unidos