Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

doi:10.1002/pd.1970140604

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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...

Topics

Cells, Cultured
Chorion
Chorionic Villi Sampling
Dosage Compensation, Genetic
Female
Humans
Infant, Newborn
Male
Mutation
Pregnancy
Prenatal Diagnosis
Pyruvate Dehydrogenase Complex
Pyruvate Dehydrogenase Complex Deficiency Disease

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