β-Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1-gangIiosidosis
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 9 (4) , 427-432
- https://doi.org/10.1111/j.1399-0004.1976.tb02272.x
Abstract
Biochemical data are presented of a 29 yr old male who shows progressive psychomotor retardation and a .beta.-galactosidase deficiency in leukocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.This publication has 18 references indexed in Scilit:
- ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCYThe Lancet, 1974
- The use of quantitative cytochemical analyses in rapid prenatal detection and somatic cell genetic studies of metabolic diseasesJournal of Molecular Histology, 1974
- Tay-Sachs and Sandhoff's disease: Intergenic complementation after somatic cell hybridizationExperimental Cell Research, 1974
- Ganglioside GM1 β-galactosidase: Studies in human liver and brainArchives of Biochemistry and Biophysics, 1973
- Electrophoretic study of hexosaminidases. Hexosaminidase CClinica Chimica Acta; International Journal of Clinical Chemistry, 1973
- Pattern of β-Galactosidase Deficiency in GM1-Gangliosidosis Type 1 and Type 2The Tohoku Journal of Experimental Medicine, 1973
- Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studiesClinical Genetics, 1972
- A New Type of Mucolipidosis with β-Galactosidase Deficiency and GlycopeptiduriaThe Tohoku Journal of Experimental Medicine, 1972
- Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (pompe's disease)Clinica Chimica Acta; International Journal of Clinical Chemistry, 1971
- The Biochemical Differentiation between Heterozygote Carriers of Metachromatic Leucodystrophy and Normal PersonsNeuropediatrics, 1971