(Q34941895)

5 August 2017

1 reference

title

Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis (English)

1 reference

5 August 2017

0 references

Jeyakumar M

1

1 reference

5 August 2017

Butters TD

series ordinal

2

1 reference

5 August 2017

Dwek RA

series ordinal

3

1 reference

5 August 2017

Platt FM

series ordinal

4

1 reference

5 August 2017

1 October 2002

1 reference

Neuropathology and Applied Neurobiology

5 August 2017

1 reference

5 August 2017

28

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5 August 2017

343-357

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5 August 2017

5

1 reference

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

5 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Improved inhibitors of glucosylceramide synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Gene transfer approaches to the lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Enzyme replacement therapy in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

New perspectives on the function of myelin galactolipids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Gaucher's disease: clinical features and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Targeting glycosylation as a therapeutic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Emerging themes in lipid rafts and caveolae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

GM1 gangliosidosis type 2 in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

The pathology of Sandhoff's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Glucosylceramide synthase and glycosphingolipid synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

An inducible mouse model of late onset Tay-Sachs disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Substrate reduction therapy for glycosphingolipid storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Improved Inhibitors of Glucosylceramide Synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

GM3 (hematoside) sphingolipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Adult GM1-gangliosidosis: clinical patterns and rectal biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Membrane traffic in sphingolipid storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Advances in the management of Anderson-Fabry disease: enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Treatment of Gaucher disease with an enzyme inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Lysosomal storage diseases in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Gene therapy of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Intracellular trafficking of glycosphingolipids: role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Topology of glycosphingolipid degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Cerebral Sponginess and GM3, Gangliosidosis: Ultrastructure and Probable Pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

GM2 ganglioside and pyramidal neuron dendritogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

A vital role for glycosphingolipid synthesis during development and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

"Global" cell replacement is feasible via neural stem cell transplantation: evidence from the dysmyelinated shiverer mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

10.1046/J.1365-2990.2002.00422.X

21 January 2018

Identifiers

DOI

1 reference

5 August 2017

1 reference