(Q46737679)

24 December 2017

title

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients (English)

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24 December 2017

pyridoxal phosphate-responsive seizures

main subject

cerebrospinal fluid

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3

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24 December 2017

Antonia Ribes

object named as

Antonia Ribes

6

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author name string

Aida Ormazabal

1

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24 December 2017

Marcus Oppenheim

2

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24 December 2017

Angels García-Cazorla

4

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24 December 2017

Jaume Campistol

5

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24 December 2017

Angeles Ruiz

7

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24 December 2017

Juan Moreno

8

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24 December 2017

Keith Hyland

9

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24 December 2017

Peter Clayton

10

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Simon Heales

11

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Rafael Artuch

12

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24 December 2017

publication date

21 February 2008

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24 December 2017

Molecular Genetics and Metabolism

published in

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24 December 2017

volume

94

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issue

2

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24 December 2017

page(s)

173-177

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24 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

A simple, sensitive and reproducible assay for pyridoxal 5′-phosphate and 4-pyridoxic acid in human plasma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.004

10.1016/J.YMGME.2008.01.004

7 January 2021

Identifiers

DOI

1 reference

24 December 2017

1 reference

24 December 2017