Glucosylsphingosine Accumulation in Mice and Patients with Type 2 Gaucher Disease Begins Early in Gestation (original) (raw)
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
Bruno Bembi
2002
View PDFchevron_right
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse
Victor Tybulewicz, R. Willemsen
Molecular and chemical …, 1995
View PDFchevron_right
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
View PDFchevron_right
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
Helen Michelakakis
Journal of Inherited Metabolic Disease, 1995
View PDFchevron_right
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
Charles Vorhees
Human Molecular Genetics, 2010
View PDFchevron_right
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry
Arnold Reuser
Journal of Neurology, 1987
View PDFchevron_right
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease
Samuel Pirruccello
Proceedings of the National Academy of Sciences, 1982
View PDFchevron_right
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration
Jessica Bame
Human Molecular Genetics, 2014
View PDFchevron_right
A new glucocerebrosidase deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
Amalia Dutra
Disease Models & Mechanisms, 2016
View PDFchevron_right
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
Silvana Zanlungo
Frontiers in Molecular Neuroscience
View PDFchevron_right
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3
Miles Herkenham
Neurobiology of Disease, 2003
View PDFchevron_right
Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition (Atena Editora)
Atena Editora
Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition (Atena Editora), 2024
View PDFchevron_right
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts
Gary Murray
European Journal of Biochemistry, 1987
View PDFchevron_right
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
T Billette
International journal of molecular sciences, 2017
View PDFchevron_right
Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease
Leanne Hein
Blood Cells, Molecules, and Diseases, 2013
View PDFchevron_right
Gaucher disease: a comprehensive review
Neal Weinreb
Gaucher Disease: Basic and Clinical Perspectives, 2013
View PDFchevron_right
Neuropathology provides clues to the pathophysiology of Gaucher disease
Carlos Colegial
Molecular Genetics and Metabolism, 2004
View PDFchevron_right
Type 2 Gaucher Disease: An Expanding Phenotype
ellen sidransky
Molecular Genetics and Metabolism, 1999
View PDFchevron_right
Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients
Sonja Van Weely
Clinical …, 1990
View PDFchevron_right
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
Gary Murray
Proceedings of the National Academy of Sciences, 1990
View PDFchevron_right
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
View PDFchevron_right
Epidemiology and natural history of Gaucher's disease
Atul Mehta
European Journal of Internal Medicine, 2006
View PDFchevron_right
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease
Marc Patterson
Annals of Neurology, 1997
View PDFchevron_right
Gaucher Disease - An Overview
Edenilson Brandl
2024
View PDFchevron_right
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Dhanpat Jain
Proceedings of the National Academy of Sciences, 2014
View PDFchevron_right
Neuronopathic juvenile glucosylceramidosis due to sap -C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant
Marie Vanier
Acta Neuropathologica, 1999
View PDFchevron_right
Gaucher disease: Recent advances in the diagnosis and management
fetouh hassanin
Medical Journal of Viral Hepatitis
View PDFchevron_right
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Bruno Bembi
Molecular genetics and metabolism, 2003
View PDFchevron_right
Gaucher disease
Rafiu Ariganjoye
Neurosciences, 2015
View PDFchevron_right
Gaucher disease and its treatment options
Lunawati Bennett
The Annals of pharmacotherapy, 2013
View PDFchevron_right