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Article

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Journal of neuropathology and experimental neurology - 1 Mar 2016

Pirot Nathalie, Crahes Marie, Adle-Biassette Homa, Soares Anais, Bucourt Martine, Boutron Audrey, Carbillon Lionel, Mignot Cyril, Trestard Laetitia, Bekri Soumeya, Laquerrière Annie

Abstract excerpt

To distinguish pyruvate dehydrogenase deficiency (PDH) from other antenatal neurometabolic disorders thereby improving prenatal diagnosis, we describe imaging findings, clinical phenotype, and brain lesions in fetuses from 3 families with molecular characterization of this condition. Neuropathological analysis was performed in 4 autopsy cases from 3 unrelated families with subsequent biochemical and molecular...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26865159
DOI: 10.1093/jnen/nlv022

Genes

PDHA1
PDHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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