PMID: 2111546Feb 1, 1990Paper

Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay

Prenatal Diagnosis
H ZhaoW J Kleijer

Abstract

A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one.

References

Apr 1, 1976·The Journal of Clinical Investigation·J SinghD Tavella
Feb 28, 1990·Clinica Chimica Acta; International Journal of Clinical Chemistry·O P van DiggelenH Galjaard
Aug 1, 1988·Clinical Genetics·A H FensomR Sheridan
Oct 1, 1985·Analytical Biochemistry·P K SmithD C Klenk
Nov 27, 1974·Biochemical and Biophysical Research Communications·W B GruhnL H Maurer
Aug 25, 1984·Lancet·A J Barson
Apr 1, 1982·The Biochemical Journal·J Glössl, H Kresse
Jul 1, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·T YutakaH Yabuuhi

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Citations

Mar 17, 2000·Prenatal Diagnosis·W J KleijerO P van Diggelen
Feb 2, 2013·Journal of Inherited Metabolic Disease·Timothy C WoodChristian J Hendriksz
May 15, 2013·Molecular Genetics and Metabolism·C J HendrikszS Tomatsu
Oct 10, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Emma J Parkinson-LawrenceDoug A Brooks
Nov 20, 2016·Expert Review of Clinical Pharmacology·Christian J Hendriksz
Jan 1, 1994·Prenatal Diagnosis·A H Fensom, P F Benson
Dec 1, 1992·Prenatal Diagnosis·M BeckA C Sewell
Oct 1, 1992·Prenatal Diagnosis·W J KleijerF J Los
Feb 28, 2020·International Journal of Molecular Sciences·Kazuki SawamotoShunji Tomatsu
Jun 22, 2021·International Journal of Biological Macromolecules·Hui GuoJunqing Qian

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