Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts (original) (raw)
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry
Arnold Reuser
Journal of Neurology, 1987
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Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients
Sonja Van Weely
Clinical …, 1990
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Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease
Sonja Van Weely
Journal of Clinical Investigation, 1993
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Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts
Gary Murray
European Journal of Biochemistry, 1987
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Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
Helen Michelakakis
Journal of Inherited Metabolic Disease, 1995
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Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase
Joseph Shiloach
Proceedings of the National Academy of Sciences, 1976
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Conditions affecting the activity of glucocerebrosidase purified fom spleens of control subjects and patients with type 1 Gaucher disease
Sonja Van Weely
Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1990
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Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
Richard Hodes
Proceedings of the National Academy of Sciences, 2010
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Relationship between Glucocerebrosidase Activity and clinical response to Enzyme Replacement Therapy in patients with Gaucher Disease type I
Vicente Giner
Basic & clinical pharmacology & toxicology, 2018
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Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
Gary Murray
Proceedings of the National Academy of Sciences, 1990
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Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
Bruno Bembi
2002
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Immunological and isoelectric focusing study of β-glucocerebrosidase from normal and Gaucher disease
Britta Hardy
Biochemical and Biophysical Research Communications, 1984
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Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers
Roberto Giugliani
Clinica Chimica Acta, 2005
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Enzymic diagnosis in 27 cases with Gaucher's disease
Klaus Harzer
Clinica Chimica Acta, 1980
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Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease
Cameron Clark
Clinical Genetics, 2008
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Cellular Uptake of Glucocerebrosidase in Gaucher Patients Receiving Enzyme Replacement Treatment
Matilde Merino Sanjuan
Clinical Pharmacokinetics, 2016
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Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease
Gary Murray
Journal of Inherited Metabolic Disease, 1994
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Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease
Leanne Hein
Blood Cells, Molecules, and Diseases, 2013
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Enzyme replacement treatment in type 1 and type 3 Gaucher's disease
Bruno Bembi
The Lancet, 1994
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Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease
Samuel Pirruccello
Proceedings of the National Academy of Sciences, 1982
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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
T Billette
International journal of molecular sciences, 2017
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Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
Thomas Kolter
Journal of Inherited Metabolic Disease, 2000
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Determination of Gaucher's disease phenotypes with monoclonal antibody
Arnold Reuser
Clinica Chimica Acta, 1983
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Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease
Pilar Alfonso
Clinica Chimica Acta, 2011
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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity
Michael Fietz
Molecular Genetics and Metabolism, 2002
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Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population
Pedro Oliveira
Clinical Genetics, 2008
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The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
Brian Martin
Human Mutation, 2002
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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
Kathleen Hruska
Human Mutation, 2008
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Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays
Benjamin Roa
Molecular Genetics and Metabolism, 2001
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Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
Paula Arévalo
Clinical Chemistry and Laboratory Medicine (CCLM), 2020
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Glucosylsphingosine Accumulation in Mice and Patients with Type 2 Gaucher Disease Begins Early in Gestation
Brian Martin, Ellen Sidransky
Pediatric Research, 2000
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