Gaucher disease: pathological mechanisms and modern management.
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Hematopoietic stem cell transplantation for Gaucher diseaseHematopoietic stem cell transplantation for Gaucher diseaseAcid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipidInvolvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formationEliglustat tartrate for the treatment of adults with type 1 Gaucher diseaseProduction of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell systemCrystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher diseaseAcid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapyLysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptorGaucher disease. Unusual presentation and mini-reviewGenome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationThrombocytopenia and bleeding in dental procedures of patients with Gaucher disease.Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.Multi-system disorders of glycosphingolipid and ganglioside metabolismCommon and uncommon pathogenic cascades in lysosomal storage diseasesGaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.Gaucher disease and its treatment options.Gaucher disease: clinical profile and therapeutic developments.Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.Gaucher disease: new developments in treatment and etiology.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment.Identification of Wolbachia-responsive microRNAs in the two-spotted spider mite, Tetranychus urticae.Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's DiseaseRecent advances towards development and commercialization of plant cell culture processes for the synthesis of biomoleculesGaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsHaemopoietic stem cell transplantation for genetic disorders.Astrocytes and lysosomal storage diseases.Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher diseaseGenetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options.Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.Lysosomal Storage Diseases-Regulating Neurodegeneration.Immune dysfunction in Niemann-Pick disease type C.Macrophage differentiation and function in health and disease.Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).Glycosylation and functionality of recombinant β-glucocerebrosidase from various production systems.
P2860
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P2860
Gaucher disease: pathological mechanisms and modern management.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Gaucher disease: pathological mechanisms and modern management.
@ast
Gaucher disease: pathological mechanisms and modern management.
@en
Gaucher disease: pathological mechanisms and modern management.
@nl
type
label
Gaucher disease: pathological mechanisms and modern management.
@ast
Gaucher disease: pathological mechanisms and modern management.
@en
Gaucher disease: pathological mechanisms and modern management.
@nl
prefLabel
Gaucher disease: pathological mechanisms and modern management.
@ast
Gaucher disease: pathological mechanisms and modern management.
@en
Gaucher disease: pathological mechanisms and modern management.
@nl
P2860
P1476
Gaucher disease: pathological mechanisms and modern management.
@en
P2093
Marina Jmoudiak
P2860
P304
P356
10.1111/J.1365-2141.2004.05351.X
P407
P577
2005-04-01T00:00:00Z