Partial Pyridoxine Responsiveness in PNPO Deficiency. - Wikidata - awgldk - TriplyDB

Partial Pyridoxine Responsiveness in PNPO Deficiency.

Partial Pyridoxine Responsiveness in PNPO Deficiency.

http://www.wikidata.org/entity/Q36591002

about

A 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.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.Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.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.Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.

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P2860

Partial Pyridoxine Responsiveness in PNPO Deficiency.

http://www.wikidata.org/entity/Q36591002

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Journal of Inherited Metabolic Disorders Reports

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Partial Pyridoxine Responsiveness in PNPO Deficiency.

@en

P2093

Colleen L McGavin

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Donald Taylor

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J Chiles

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Keith Hyland

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Phillip L Pearl

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Yuezhou Yu

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P2860

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

New treatment paradigms in neonatal metabolic epilepsies.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine

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139-142

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scholarly article

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10.1007/8904_2012_194

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9

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2012-11-07T00:00:00Z

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