The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
about
Clinical manifestations and management of Gaucher diseaseUnderstanding the natural history of Gaucher diseaseGaucher disease and comorbidities: B-cell malignancy and parkinsonismGaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolismHigh throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseGenome-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 TreatmentsFocal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.Hematological manifestations and complications of Gaucher disease.Autophagy and SQSTM1 on the RHOA(d) again: emerging roles of autophagy in the degradation of signaling proteins.Expanding 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.Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.Gaucher's disease and cancer: a sphingolipid perspectiveMalignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storageA reappraisal of Gaucher disease-diagnosis and disease management algorithms.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammationEvaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activityPhenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.Gaucher disease gene GBA functions in immune regulation.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships.The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.Gaucher disease and cancer: concept and controversy.Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.Gaucher disease and bone manifestations.Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population.
P2860
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P2860
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The underrecognized progressiv ...... of cancer risk in 403 patients
@ast
The underrecognized progressiv ...... of cancer risk in 403 patients
@en
The underrecognized progressiv ...... of cancer risk in 403 patients
@nl
type
label
The underrecognized progressiv ...... of cancer risk in 403 patients
@ast
The underrecognized progressiv ...... of cancer risk in 403 patients
@en
The underrecognized progressiv ...... of cancer risk in 403 patients
@nl
prefLabel
The underrecognized progressiv ...... of cancer risk in 403 patients
@ast
The underrecognized progressiv ...... of cancer risk in 403 patients
@en
The underrecognized progressiv ...... of cancer risk in 403 patients
@nl
P2093
P2860
P356
P1476
The underrecognized progressiv ...... of cancer risk in 403 patients
@en
P2093
Advitya Malhotra
Gregory M Pastores
Katherine A Kacena
Kirk A Aleck
Michael Boxer
Pramod K Mistry
Ruhua Yang
P2860
P304
P356
10.1002/AJH.21362
P577
2009-04-01T00:00:00Z