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Article

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.

Neuropediatrics - 1 Feb 2008

Debray F-G, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson B H, Mitchell G A

Abstract excerpt

OBJECTIVE: The aim of this study is to report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170). METHODS: PDH activity and PDHA1 gene were studied in two siblings presenting with intermittent ataxia in childhood. Similar presentations in reported PDH-def...

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Source

Identifiers

PMID: 18504677
DOI: 10.1055/s-2008-1077084

Genes

PDHA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18504677-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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