Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

Journal of Inherited Metabolic Disease
R A ChalmersI R McFadyen

Abstract

This paper reports the prenatal diagnosis of HMG CoA lyase deficiency at 16 weeks' gestation by direct chemical analysis of cell-free amniotic fluid and by measurement of HMG CoA lyase activity in cultured amniocytes. Termination of an affected fetus allowed study of chorionic villus tissue, the results providing the basis for future first trimester prenatal diagnoses of this condition. An abstract report of this work has appeared elsewhere.

References

Sep 6, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·S J Wysocki, R Hähnel
Jan 1, 1986·Journal of Inherited Metabolic Disease·S J Wysocki, R Hähnel
Jan 1, 1988·Journal of Inherited Metabolic Disease·K M GibsonF Reverte
Apr 1, 1984·Journal of Neurogenetics·C L GreeneW L Nyhan

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Citations

Aug 19, 2007·Molecular Genetics and Metabolism·Juan PiéNúria Casals
Jul 31, 2007·Biochemical and Biophysical Research Communications·Stefania AsseretoClaudio Bruno
Aug 1, 1995·Prenatal Diagnosis·G A MitchellL Dallaire
May 29, 2004·Journal of Physiology and Biochemistry·J PieF G Hegardt

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