(Q40317796)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763917%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Substrate reduction therapy of glycosphingolipid storage disorders (English)

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29 January 2020

1

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29 January 2020

Rolf G Boot

3

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29 January 2020

author name string

Carla E M Hollak

2

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29 January 2020

Johanna E M Groener

4

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29 January 2020

Mario Maas

5

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29 January 2020

publication date

1 April 2006

1 reference

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Journal of Inherited Metabolic Disease

29 January 2020

published in

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29 January 2020

volume

29

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29 January 2020

issue

2-3

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29 January 2020

page(s)

449-456

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Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease

29 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0272-5

Therapy of Niemann-Pick disease, type C.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0272-5

The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0272-5

Gaucher's disease: clinical features and natural history

21 January 2018

1 reference

12 December 2020

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

1 reference

12 December 2020

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

1 reference

12 December 2020

Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis.

1 reference

12 December 2020

Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation

1 reference

12 December 2020

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

1 reference

12 December 2020

Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase

1 reference

12 December 2020

Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins

1 reference

12 December 2020

Evaluation of three biochemical markers in the monitoring of Gaucher disease

1 reference

12 December 2020

INBORN LYSOSOMAL DISEASES.

1 reference

12 December 2020

Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity.

1 reference

12 December 2020

Neurobiology and cellular pathogenesis of glycolipid storage diseases

1 reference

12 December 2020

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

1 reference

12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

1 reference

12 December 2020

Remaining problems in the management of patients with Gaucher disease

1 reference

12 December 2020

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease

1 reference

12 December 2020

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

1 reference

12 December 2020

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

1 reference

12 December 2020

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

1 reference

12 December 2020

Critical role for glycosphingolipids in Niemann-Pick disease type C.

1 reference

12 December 2020

Gaucher disease: complexity in a "simple" disorder

1 reference

12 December 2020

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

1 reference

12 December 2020

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

1 reference

12 December 2020

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

1 reference

12 December 2020

Treatment of Gaucher disease with an enzyme inhibitor

1 reference

12 December 2020

Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

1 reference

12 December 2020

Ten years' experience of bone marrow transplantation for Gaucher disease.

1 reference

12 December 2020

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

1 reference

12 December 2020

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

1 reference

12 December 2020

Miglustat. Oxford GlycoSciences/Actelion.

1 reference

12 December 2020

Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease

1 reference

12 December 2020

The human chitotriosidase gene. Nature of inherited enzyme deficiency

1 reference

12 December 2020

Storage solutions: treating lysosomal disorders of the brain

1 reference

12 December 2020

Lysosomal storage diseases

1 reference

12 December 2020

N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

1 reference

12 December 2020

Lessons learned from the development of enzyme therapy for Gaucher disease

1 reference

12 December 2020

Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells

1 reference

12 December 2020

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses

1 reference

12 December 2020

Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies

1 reference

12 December 2020

Prevalence of lysosomal storage disorders

1 reference

12 December 2020

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

12 December 2020

Blood to brain to the rescue.

1 reference

12 December 2020

Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K.

1 reference

12 December 2020

Improved Inhibitors of Glucosylceramide Synthase

1 reference

12 December 2020

Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources

1 reference

12 December 2020

Clinically relevant therapeutic endpoints in type I Gaucher disease.

1 reference

12 December 2020

Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain

1 reference

12 December 2020

Management of neuronopathic Gaucher disease: a European consensus.

1 reference

12 December 2020

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

1 reference

12 December 2020

Crystal structures of allosamidin derivatives in complex with human macrophage chitinase

1 reference

12 December 2020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

1 reference

12 December 2020

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.

1 reference

12 December 2020

Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins

1 reference

12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

1 reference

12 December 2020

Individualised low-dose alglucerase therapy for type 1 Gaucher's disease

1 reference

12 December 2020

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

1 reference

12 December 2020

Clinical gene therapy in hematology: past and future

1 reference

12 December 2020

Gaucher's disease: past, present and future

1 reference

12 December 2020

Plasma and metabolic abnormalities in Gaucher's disease.

1 reference

12 December 2020

Mannose receptor and its putative ligands in normal murine lymphoid and nonlymphoid organs: In situ expression of mannose receptor by selected macrophages, endothelial cells, perivascular microglia, and mesangial cells, but not dendritic cells

1 reference

12 December 2020

Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

1 reference

12 December 2020

Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease.

1 reference

12 December 2020

Agents for the treatment of glycosphingolipid storage disorders

1 reference

12 December 2020

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

1 reference

12 December 2020

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

1 reference

12 December 2020

10.1007/S10545-006-0272-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16763917%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 January 2020

1023152373

0 references

1 reference