Literature DB >> 25601883

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Tyson L Ware1, James Pitt2, Jeremy Freeman3.   

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Year:  2015        PMID： 25601883     DOI： 10.1212/WNL.0000000000001147

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Authors:  B Jaeger; N G Abeling; G S Salomons; E A Struys; M Simas-Mendes; V G Geukers; B T Poll-The
Journal:  Mol Genet Metab Rep       Date:  2016-02-10

2.  Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.

Authors:  Remi Stevelink; Faith Pangilinan; Floor E Jansen; Kees P J Braun; Anne M Molloy; Lawrence C Brody; Bobby P C Koeleman
Journal:  Mol Genet Metab Rep       Date:  2019-10-11
  2 in total

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