Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
about
Glucocerebrosidase is shaking up the synucleinopathiesImiglucerase in the treatment of Gaucher disease: a history and perspectiveThe clinical management of Type 2 Gaucher diseasePerinatal systemic gene delivery using adeno-associated viral vectorsRevised recommendations for the management of Gaucher disease in children.Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.Perinatal-lethal Gaucher disease presenting as hydrops fetalis.Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse modelProgress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.Animal models for Gaucher disease research.Epilepsy in children--when should we think neurometabolic disease?Gaucher disease paradigm: from ERAD to comorbidity.Gauchers disease--a reappraisal of hematopoietic stem cell transplantation.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.The Spectrum of Neurological Manifestations Associated with Gaucher Disease.Challenges of biomarkers in drug discovery and development.Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions.Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia.
P2860
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P2860
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@ast
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@en
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@nl
type
label
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@ast
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@en
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@nl
prefLabel
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@ast
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@en
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@nl
P2093
P2860
P1476
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
@en
P2093
E F Kauvar
E Sidransky
I M Oppenheim
P2860
P356
10.1016/J.BCMD.2010.08.012
P577
2010-09-28T00:00:00Z