Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts
Charbonne, F.; Rousseau, P.; Malpuech, G.; Geneix, A.
Archives Francaises de Pediatrie 37(1): 51-53
1980
ISSN/ISBN: 0003-9764 PMID: 7469686 Document Number: 155880
Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.
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