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Rethinking fatigue in Gaucher diseaseClinical manifestations and management of Gaucher diseaseCervical lymph node diseases in childrenGlucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell deathA Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.Hematological manifestations and complications of Gaucher disease.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.The pleiotropic roles of sphingolipid signaling in autophagyUsing pharmacological chaperones to restore proteostasisType II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammationA phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice.Association Between Progranulin and Gaucher Disease.Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.Human as the Ultimate Wound Healing Model: Strategies for Studies Investigating the Dermal Lipidome.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.A sensitive gel-based method combining distinct cyclophellitol-based probes for the identification of acid/base residues in human retaining β-glucosidases.Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site.Are There Neurological Symptoms in Type 1 of Gaucher Disease?Pharmacotherapy of Gaucher Disease: Current and Future Options.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Gaucher disease and other storage disorders
@ast
Gaucher disease and other storage disorders
@en
Gaucher disease and other storage disorders
@nl
type
label
Gaucher disease and other storage disorders
@ast
Gaucher disease and other storage disorders
@en
Gaucher disease and other storage disorders
@nl
prefLabel
Gaucher disease and other storage disorders
@ast
Gaucher disease and other storage disorders
@en
Gaucher disease and other storage disorders
@nl
P1476
Gaucher disease and other storage disorders
@en
P2093
Gregory A Grabowski
P356
10.1182/ASHEDUCATION-2012.1.13
P407
P577
2012-01-01T00:00:00Z