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Article

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.

Archives of disease in childhood. Fetal and neonatal edition - 1 Mar 2008

Bagci S, Zschocke J, Hoffmann G F, Bast T, Klepper J, Müller A, Heep A, Bartmann P, Franz A R

Abstract excerpt

Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seiz...

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Identifiers

PMID: 18296573
DOI: 10.1136/adc.2006.115162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18296573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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