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Article

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

Prenatal diagnosis - 1 Jun 1994

Brown R M, Brown G K

Abstract excerpt

Pyruvate dehydrogenase (PDH) E1 alpha subunit deficiency is an X-linked inborn error of metabolism affecting males and females with equal frequency. The diagnosis is usually based on determination of enzyme activity, although this may present difficulties in some females because of X-inactivation patterns favouring expression of the normal X chromosome. This is a particular problem for prenatal diagnosis using...

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Identifiers

PMID: 7937579
DOI: 10.1002/pd.1970140604

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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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