COMBINED β-GALACTOSIDASE-SIALIDASE DEFICIENCY IN MAN: GENETIC DEFECT OF A “PROTECTIVE PROTEIN”
- 1 January 1984
- book chapter
- Published by Elsevier
Abstract
No abstract availableThis publication has 36 references indexed in Scilit:
- Morquio disease, type B: Activation of GM1-β-galactosidase by GM1-activator proteinBiochemical and Biophysical Research Communications, 1982
- Purification of acid β-galactosidase and acid neuraminidase from bovine testis: Evidence for an enzyme complexBiochemical and Biophysical Research Communications, 1982
- Enhanced proteolytic degradation of normal β-galactosidase in the lysosomal storage disease with combined β-galactosidase and neuraminidase deficiencyBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1982
- Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblastsBiochemical and Biophysical Research Communications, 1981
- Complementation analysis of human sialidase deficiency using natural substratesAnnals of Human Genetics, 1981
- Genetic heterogeneity in human neuraminidase deficiencyNature, 1980
- Neuraminidase deficiency in the cherry red spot-myoclonus syndromeBiochemical and Biophysical Research Communications, 1977
- Molecular genetics of GM1β‐galactosidaseClinical Genetics, 1975
- Genetic heterogeneity in GM1-gangliosidosisNature, 1975
- ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCYThe Lancet, 1974