GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis
- 1 April 1985
- journal article
- research article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism
- Vol. 834 (2) , 238-248
- https://doi.org/10.1016/0005-2760(85)90161-4
Abstract
No abstract availableKeywords
This publication has 49 references indexed in Scilit:
- Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidosesClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Tay-Sachs disease: one-step assay of β-N-acetylhexosaminidase in serum with a sulphated chromogenic substrateClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrateClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Assay of ganglioside activity in human fibroblasts employing the natural activator protein — Diagnosis of variant forms of GM2 gangliosidosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Globoid cell leukodystrophy (Krabbe's disease)Journal of the Neurological Sciences, 1978
- Ganglioside GM2 N‐acetyl‐ß‐D‐gafactosaminidase and asialo GM2 (GA2) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblastsClinical Genetics, 1977
- Specificity of Human Liver Hexosaminidases A and B against Glycosphingolipids GM2and GA2. Purification of the Enzymes by Affinity Chromatography Employing Specific ElutionHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1977
- Absence of Hexosaminidase a and B in a Normal AdultNew England Journal of Medicine, 1975
- [117] Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sach's diseasePublished by Elsevier ,1972
- The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukodystrophyArchives of Biochemistry and Biophysics, 1970