Phenotype, diagnosis, and treatment of Gaucher's disease.
about
CD47: A Cell Surface Glycoprotein Which Regulates Multiple Functions of Hematopoietic Cells in Health and DiseaseEnzyme replacement and substrate reduction therapy for Gaucher diseaseEnzyme replacement and substrate reduction therapy for Gaucher diseaseGaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesImmunological cells and functions in Gaucher diseaseUnderstanding the natural history of Gaucher diseaseMechanisms of protein-folding diseases at a glanceGlucocerebrosidase and Parkinson disease: Recent advancesGaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolismViable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synucleinThe relationship between glucocerebrosidase mutations and Parkinson diseaseOral Delivery of Protein Drugs Bioencapsulated in Plant CellsGaucher disease. Unusual presentation and mini-reviewMitochondrial dysfunction associated with glucocerebrosidase deficiencyHigh throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseMitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's diseaseGenome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variationA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsA Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.Advanced mass spectrometry-based methods for the analysis of conformational integrity of biopharmaceutical productsA microfluidic device with fluorimetric detection for intracellular components analysis.Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.Revised recommendations for the management of Gaucher disease in children.A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage.Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher diseaseA multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.A new archaeal beta-glycosidase from Sulfolobus solfataricus: seeding a novel retaining beta-glycan-specific glycoside hydrolase family along with the human non-lysosomal glucosylceramidase GBA2Evaluation of estimation methods and power of tests of discrete covariates in repeated time-to-event parametric models: application to Gaucher patients treated by imiglucerase.Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.Multiple pathogenic proteins implicated in neuronopathic Gaucher disease miceExpanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype.The risk of Parkinson's disease in type 1 Gaucher disease.Hyperferritinemia and iron overload in type 1 Gaucher disease.Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher diseaseEmerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's diseaseImaging of Gaucher disease.Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
P2860
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P2860
Phenotype, diagnosis, and treatment of Gaucher's disease.
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Phenotype, diagnosis, and treatment of Gaucher's disease.
@ast
Phenotype, diagnosis, and treatment of Gaucher's disease.
@en
Phenotype, diagnosis, and treatment of Gaucher's disease.
@nl
type
label
Phenotype, diagnosis, and treatment of Gaucher's disease.
@ast
Phenotype, diagnosis, and treatment of Gaucher's disease.
@en
Phenotype, diagnosis, and treatment of Gaucher's disease.
@nl
prefLabel
Phenotype, diagnosis, and treatment of Gaucher's disease.
@ast
Phenotype, diagnosis, and treatment of Gaucher's disease.
@en
Phenotype, diagnosis, and treatment of Gaucher's disease.
@nl
P1433
P1476
Phenotype, diagnosis, and treatment of Gaucher's disease.
@en
P2093
Gregory A Grabowski
P304
P356
10.1016/S0140-6736(08)61522-6
P407
P577
2008-10-01T00:00:00Z