Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

Deficiency of pyridox(am)ine 5′-phosphate oxidase (PNPO, OMIM 610090) is a treatable autosomal recessive inborn error of metabolism. Neonatal epileptic encephalopathy and a low cerebrospinal fluid (CSF) pyridoxal 5′-phosphate level are the reported hallmarks of PNPO deficiency, but its clinical and...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Levtova, Alina, Camuzeaux, Stephane, Laberge, Anne-Marie, Allard, Pierre, Brunel-Guitton, Catherine, Diadori, Paola, Rossignol, Elsa, Hyland, Keith, Clayton, Peter T., Mills, Philippa B., Mitchell, Grant A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486275/
https://ncbi.nlm.nih.gov/pubmed/25762494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_413
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