Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
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Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.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.Benign and severe early-life seizures: a round in the first year of life.
P2860
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P2860
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Typical and atypical phenotype ...... sma pyridoxamine on treatment.
@en
type
label
Typical and atypical phenotype ...... sma pyridoxamine on treatment.
@en
prefLabel
Typical and atypical phenotype ...... sma pyridoxamine on treatment.
@en
P2093
P2860
P356
P1476
Typical and atypical phenotype ...... sma pyridoxamine on treatment.
@en
P2093
Eduard A Struys
Gajja S Salomons
Heidi L Peters
James J Pitt
Jeremy L Freeman
Katherine B Howell
Tyson L Ware
P2860
P304
P356
10.1111/DMCN.12346
P577
2013-11-23T00:00:00Z