(Q38533848)

3 September 2017

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title

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry (English)

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3 September 2017

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Gregory A Grabowski

1

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3 September 2017

Ari Zimran

series ordinal

2

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3 September 2017

Hiroyuki Ida

series ordinal

3

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3 September 2017

publication date

1 July 2015

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American Journal of Hematology

3 September 2017

published in

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3 September 2017

volume

90 Suppl 1

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3 September 2017

page(s)

S12-8

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Prediction of severity of Gaucher's disease by identification of mutations at DNA level

3 September 2017

cites work

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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

21 January 2018

1 reference

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

21 January 2018

1 reference

Therapeutic goals in the treatment of Gaucher disease.

21 January 2018

1 reference

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

21 January 2018

1 reference

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

21 January 2018

1 reference

Gaucher disease: complexity in a "simple" disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults

21 January 2018

1 reference

Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

21 January 2018

1 reference

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

21 January 2018

1 reference

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

21 January 2018

1 reference

Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil

21 January 2018

1 reference

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world

21 January 2018

1 reference

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

21 January 2018

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Parkinsonism among Gaucher disease carriers

21 January 2018

1 reference

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease

21 January 2018

1 reference

Gaucher disease and parkinsonism

21 January 2018

1 reference

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

1 reference

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

21 January 2018

1 reference

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays

21 January 2018

1 reference

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

21 January 2018

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Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

21 January 2018

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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

21 January 2018

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Individualization of long-term enzyme replacement therapy for Gaucher disease

21 January 2018

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Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

21 January 2018

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Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

21 January 2018

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Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy

21 January 2018

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Gaucher disease--Norrbottnian type. I. General clinical description

21 January 2018

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Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

21 January 2018

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Pulmonary Hypertension after Splenectomy?

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJH.24063

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3 September 2017

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