Prenatal diagnosis of inborn errors of metabolism

R. Matalon

doi:10.1002/j.1879-3479.1976.tb00616.x

Prenatal diagnosis of inborn errors of metabolism

R. Matalon

Research output: Contribution to journal › Article › peer-review

Abstract

More than 50 inborn errors of metabolism can be diagnosed in the fetus. This is accomplished by evaluation of constituents of the cell free amniotic fluid or of cultured or uncultured amniotic fluid cells. Only those syndromes with specific abnormal contributions to amniotic fluid can be so diagnosed. Currently diagnosable diseases and their assay methods are reviewed. Such assay methods must be able to differentiate the unaffected heterozygote from the affected homozygote.

Original language	English (US)
Pages (from-to)	301-307
Number of pages	7
Journal	International Journal of Gynecology and Obstetrics
Volume	14
Issue number	4
DOIs	https://doi.org/10.1002/j.1879-3479.1976.tb00616.x
State	Published - Jan 1 1976
Externally published	Yes

ASJC Scopus subject areas

Obstetrics and Gynecology

Access to Document

10.1002/j.1879-3479.1976.tb00616.x

Cite this

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Prenatal diagnosis of inborn errors of metabolism

Abstract

ASJC Scopus subject areas

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