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

Title
Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation
Authors
Keywords
Pyridoxal-5′-phosphate oxidase deficiency, Vitamin B, 6, Pyridoxal-5′-phosphate, Epilepsy, Vitamin dependent epilepsies, Children
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 122, Issue 1-2, Pages 135-142
Publisher
Elsevier BV
Online
2017-08-12
DOI
10.1016/j.ymgme.2017.08.003

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