Rapid Prenatal Diagnosis of GM1-gangliosidosis Using Microchemical Methods

Overview

Journal Hum Genet

Specialty Genetics

Date 1976 Aug 30

PMID 823094

Citations 4

Authors

W J Kleijer

E van der Veer

M F Niermeijer

Affiliations

Soon will be listed here.

Abstract

Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. Beta-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10--30 freeze-dried cells. The latter method requires only a few hundred cells growing in one or more clones and will usually allow a diagnosis within 9--12 days after amniocentesis.

Citing Articles

Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.

Fortuin J, Kleijer W Hum Genet. 1980; 53(2):155-9.

PMID: 6766899 DOI: 10.1007/BF00273487.

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.

VAN GEMUND J, GIESBERTS M, Eerdmans R, Blom W, Kleijer W Hum Genet. 1983; 64(1):50-4.

PMID: 6409799 DOI: 10.1007/BF00289478.

Lysosomal enzyme activities in different types of amniotic fluid cells measured by microchemical methods, combined with interference microscopy.

van der Veer E, Kleijer W, de Josselin de Jong J, GALJAARD H Hum Genet. 1978; 40(3):285-92.

PMID: 631847 DOI: 10.1007/BF00272189.

Prenatal diagnosis of GM1-gangliosidosis: biochemical manifestations in fetal tissues.

Kudoh T, Kikuchi K, Nakamura F, Yokoyama S, Karube K, Tsugawa S Hum Genet. 1978; 44(3):287-93.

PMID: 103801 DOI: 10.1007/BF00394293.

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