(Q34556549)

3 August 2017

1 reference

title

Gaucher disease: pathological mechanisms and modern management (English)

1 reference

3 August 2017

1 reference

Anthony H Futerman

2

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author name string

Marina Jmoudiak

series ordinal

1

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PubMed ID

15813845

3 August 2017

language of work or name

English

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publication date

1 April 2005

1 reference

British Journal of Haematology

3 August 2017

1 reference

3 August 2017

129

1 reference

3 August 2017

2

1 reference

3 August 2017

178-188

1 reference

Agents for the treatment of glycosphingolipid storage disorders

3 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Pathological findings in Gaucher disease type 2 patients following enzyme therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Enzyme replacement therapy: conception, chaos and culmination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The roles of ceramide and complex sphingolipids in neuronal cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Plasma lipoprotein responses to enzyme-replacement in Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.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/10.1111%2FJ.1365-2141.2004.05351.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Gene Transfer Strategies for Correction of Lysosomal Storage Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Enzyme replacement and enhancement therapies for lysosomal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Treatment of lysosomal storage disorders: cell therapy and gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The complex life of simple sphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The cell biology of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

New directions in the treatment of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Platelet function abnormalities in Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The pathogenesis of glycosphingolipid storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Lysosome-sarcoplasmic reticulum junctions. A trigger zone for calcium signaling by nicotinic acid adenine dinucleotide phosphate and endothelin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Inhibition of mevalonate pathway is involved in alendronate-induced cell growth inhibition, but not in cytokine secretion from macrophages in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Management of neuronopathic Gaucher disease: a European consensus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Gaucher disease: Perspectives on a prototype lysosomal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Gaucher disease and the clinical experience with substrate reduction therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.05351.X

10.1111/J.1365-2141.2004.05351.X

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference

PubMed ID

15813845