Oligosaccharide excretion in adult Gaucher disease (original) (raw)
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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Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
Bruno Bembi
2002
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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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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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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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Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients
Sonja Van Weely
Clinical Genetics, 2008
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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts
Sonja Van Weely
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
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Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry
Arnold Reuser
Journal of Neurology, 1987
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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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Enzyme replacement therapy for mild patients with Gaucher disease
Ari Zimran
American Journal of Hematology, 2009
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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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Enzymic diagnosis in 27 cases with Gaucher's disease
Klaus Harzer
Clinica Chimica Acta, 1980
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Diagnosis of Lysosomal Storage Disorders: Gaucher Disease
Angela Dajnoki
Current Protocols in Human Genetics, 2001
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Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy
Tatsuhiko Miyazaki
Blood cells, molecules & diseases, 2016
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Quantification of glucosylceramide in plasma of Gaucher disease patients
Luciene Vianna, Maria Muller
Brazilian Journal of Pharmaceutical Sciences, 2010
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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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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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Enzyme replacement treatment in type 1 and type 3 Gaucher's disease
Bruno Bembi
The Lancet, 1994
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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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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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Clinico-hematological profile of lysosomal storage disorders — a report of three cases
Aparna Harbhajanka
Indian Journal of Hematology and Blood Transfusion, 2008
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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Ana Martins
Journal of Inherited Metabolic Disease, 2008
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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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Reduced glucosylceramide in the mouse model of Fabry disease: Correction by successful enzyme replacement therapy
Daniel Rodrigues
Gene, 2014
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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Maria Lucia G Ferraz
Blood, 2011
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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
Simona Fecarotta
Orphanet Journal of Rare Diseases, 2023
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Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature
Gökhan Kabaçam
Turkish Journal of Haematology
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Plasmalogen levels in Gaucher disease
Theodoros Marinakis
Blood Cells, Molecules, and Diseases, 2008
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