Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation

出版年份 2017 全文链接

标题

作者

关键词

Pyridoxal-5′-phosphate oxidase deficiency, Vitamin B, 6, Pyridoxal-5′-phosphate, Epilepsy, Vitamin dependent epilepsies, Children

出版物

MOLECULAR GENETICS AND METABOLISM

Volume 122, Issue 1-2, Pages 135-142

出版商

Elsevier BV

发表日期

2017-08-12

DOI

10.1016/j.ymgme.2017.08.003

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