Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. - Wikidata - wikimedia - TriplyDB

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

http://www.wikidata.org/entity/Q33391849

about

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease Understanding the natural history of Gaucher disease Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells Adult Gaucher disease in southern Tunisia: report of three cases Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Gaucher disease and its treatment options.Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.An ACE diagnosis.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.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.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.Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis.Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

http://www.wikidata.org/entity/Q33391849

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年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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name

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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type

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

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ARCHINTERNMED.2010.302

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JAMA Internal Medicine

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Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

@en

P2093

Laura Fuerstman

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Lisa Edelmann

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Manisha Balwani

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Robert J Desnick

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Ruth Kornreich

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P2860

The human chitotriosidase gene. Nature of inherited enzyme deficiency

Carrier screening in individuals of Ashkenazi Jewish descent

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

Gaucher disease: new molecular approaches to diagnosis and treatment

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.

Gaucher disease: gene frequencies and genotype/phenotype correlations.

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

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10.1001/ARCHINTERNMED.2010.302

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