Gaucher Disease
- 1 January 1993
- book chapter
- Published by Springer Nature
Abstract
No abstract availableKeywords
This publication has 219 references indexed in Scilit:
- Genetic diagnosis of Gaucher's diseaseThe Lancet, 1992
- Human acid β-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active siteBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1990
- Human acid β-glucosidase: Glycosylation is required for catalytic activityBiochemical and Biophysical Research Communications, 1990
- Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyBiochemical and Biophysical Research Communications, 1990
- Normalization of liver glucosylceramide levels in the “Gaucher” mouse by phosphatidylserine injectionBiochemical and Biophysical Research Communications, 1988
- A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's DiseaseNew England Journal of Medicine, 1987
- Bone-Marrow Transplantation in Severe Gaucher's DiseaseNew England Journal of Medicine, 1984
- Hematological findings in the Norrbottnian type of Gaucher diseaseEuropean Journal of Pediatrics, 1982
- Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activityBiochemical and Biophysical Research Communications, 1976
- Infantile (type II) Gaucher's disease: In utero diagnosis and fetal pathologyThe Journal of Pediatrics, 1972