Carrier detection for sanfilippo A syndrome
- 25 September 1986
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 11 (2) , 158-160
- https://doi.org/10.1007/bf01799865
Abstract
In Sanfillipo A families, sulphamidase activities in leukocytes and cultured fibroblasts determined at 55°C distinguish between heterozygote-carriers, normal individuals and the homozygotes.Keywords
This publication has 6 references indexed in Scilit:
- Mucopolysaccharidosis III A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytesPublished by Elsevier ,2004
- Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)Clinical Genetics, 1981
- The laboratory diagnosis of sanfilippo diseaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVERJournal of Clinical Investigation, 1974
- Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.Proceedings of the National Academy of Sciences, 1966
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951