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Article

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.

Pediatric neurology - 1 May 1996

Fujii T, Garcia Alvarez M B, Sheu K F, Kranz-Eble P J, De Vivo D C

Abstract excerpt

We report 7 patients with pyruvate dehydrogenase (PDH) deficiency caused by mutations of the PDH-E1 alpha subunit. Each patient had a different mutation; 4 with duplicate insertions, 1 with a deletion of tandem repeat, and 2 with point mutations. Five of the mutations were novel, thus confirming allelic heterogeneity. Immunoblot analysis revealed decreased immunoreactivity for the E1 alpha and E1 beta subunits in...

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PMID: 8962591
DOI: 10.1016/0887-8994(96)00058-6

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

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