PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

Item
http://www.wikidata.org/entity/Q46591099
Molecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy DisorderVitamin B6 in plasma and cerebrospinal fluid of childrenA nutritional conditional lethal mutant due to pyridoxine 5'-phosphate oxidase deficiency in Drosophila melanogaster.Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.Pyridoxine responsiveness in novel mutations of the PNPO gene.Epilepsy in children--when should we think neurometabolic disease?Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review.The genetic landscape of infantile spasms
P2860

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

Item
http://www.wikidata.org/entity/Q46591099
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@en
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@nl
type
label
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@en
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@nl
prefLabel
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@en
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.
@en
P2093
P304
P31
P356
10.1016/J.YMGME.2008.04.008
P433
P478
P577
P698