Literature DB >> 403124

Utilization of electron microscopy in the prenatal diagnosis of genetic disease.

P R Wyatt, D M Cox.   

Abstract

The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid fibroblasts is presented. It was demonstrated that Tay-Sachs disease, Fabry's disease, and metachromatic leukodystrophy had distinctive abnormalities in both cultured skin fibroblasts and cultured amniotic fluid fibroblasts. It was shown that control of culturing conditions made it possible to distinguish normal cell lines from certain cell lines carrying known genetic diseases.

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Year:  1977        PMID: 403124     DOI: 10.1159/000152849

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  2 in total

1.  Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins.

Authors:  L Hasholt; S A Sørensen
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

2.  Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

Authors:  J J Martin; C Ceuterick
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-03       Impact factor: 10.154

  2 in total

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