Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
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Understanding the natural history of Gaucher diseaseType 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Adult Gaucher disease in southern Tunisia: report of three casesThe French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns.The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patientsPatients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Gaucher disease and bone manifestations.Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.The history and accomplishments of the ICGG Gaucher registry.Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
P2860
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P2860
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@ast
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@en
type
label
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@ast
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@en
prefLabel
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@ast
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@en
P2093
P1476
Phenotypic heterogeneity of N3 ...... rom the ICGG Gaucher Registry.
@en
P2093
M Cizmarik
M Phillips
P2888
P304
P356
10.1007/S10545-008-0868-Z
P577
2008-11-03T00:00:00Z
P6179
1019520262