Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy
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DOI: 10.3390/ijms222112013
Abstract: Several variants of the enzyme pyridox(am)ine 5′-phosphate oxidase (PNPO), responsible for a rare form of vitamin B6-dependent neonatal epileptic encephalopathy known as PNPO deficiency (PNPOD), have been reported. However, only a few of them have… read more here.
Keywords: pathogenic variants; pyridox ine; phosphate oxidase; ine phosphate ... See more keywords