Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

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Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

Systemic Manifestations in Pyridox

@nl

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

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Item

label

Systemic Manifestations in Pyridox

@nl

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

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Systemic Manifestations in Pyridox

@nl

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

@en

P1476

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency

@en

P2093

Ankoor S Shah

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Brian Walsh

http://www.w3.org/2001/XMLSchema#string

Fiona M Baumer

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Jurriaan M Peters

http://www.w3.org/2001/XMLSchema#string

Lance H Rodan

http://www.w3.org/2001/XMLSchema#string

Masanori Takeoka

http://www.w3.org/2001/XMLSchema#string

Pankaj B Agrawal

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Réjean M Guerriero

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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

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

B6-responsive disorders: a model of vitamin dependency.

Partial Pyridoxine Responsiveness in PNPO Deficiency.

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

New treatment paradigms in neonatal metabolic epilepsies.

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Pyridoxine responsiveness in novel mutations of the PNPO gene.

P304

47-53

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P31

scholarly article

P356

10.1016/J.PEDIATRNEUROL.2017.05.024

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P478

http://www.w3.org/2001/XMLSchema#string

P50

Phillip L Pearl

Archana A Patel

P577

2017-06-03T00:00:00Z

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P698

28985901

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P932

6008785

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