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Pediatric Neurology Briefs
Article . 2010 . Peer-reviewed
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Pediatric Neurology Briefs
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Pediatric Neurology Briefs
Article . 2010
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https://dx.doi.org/10.15844/pe...
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ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

descriptionPublicationkeyboard_double_arrow_right Article 01 Aug 2010Publisher:Pediatric Neurology Briefs PublishersJournal:Pediatric Neurology Briefs, volume 24, page 62 (issn: 1043-3155, eissn: 2166-6482, Copyright policy )
Authors: J Gordon Millichap;

doi: 10.15844/pedneurbriefs-24-8-6

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

Abstract

Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha-aminoadipic semialdehyde (a-AASA) concentration and mutational analysis of the ALDH7A1 gene that encodes antiquitin.

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Keywords

alpha-aminoadipic semialdehyde, diabetes insipidus, Neurology. Diseases of the nervous system, RC346-429, Pediatrics, ventriculomegaly, RJ1-570

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
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