Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. - Wikidata - wikimedia - TriplyDB

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

http://www.wikidata.org/entity/Q34479337

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Glucocerebrosidase is shaking up the synucleinopathies Imiglucerase in the treatment of Gaucher disease: a history and perspective The clinical management of Type 2 Gaucher disease Perinatal systemic gene delivery using adeno-associated viral vectors Revised 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 model Progress 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.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

http://www.wikidata.org/entity/Q34479337

description

2010 nî lūn-bûn

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2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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type

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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J.BCMD.2010.08.012

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Blood Cells, Molecules and Diseases

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

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E F Kauvar

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E Sidransky

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I M Oppenheim

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P2860

The human chitotriosidase gene. Nature of inherited enzyme deficiency

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

Structure and organization of the human metaxin gene (MTX) and pseudogene

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

Type 2 gaucher disease: an expanding phenotype

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

Neonatal cholestasis and infantile Gaucher disease: a case report.

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Enzyme replacement treatment in type 1 and type 3 Gaucher's disease.

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