The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients (Q33403714)

26 July 2017

The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients (English)

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Thierry Billette de Villemeur

26 July 2017

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Marie Vigan

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object named as

Thierry Billette de Villemeur

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26 July 2017

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France Mentré

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26 July 2017

Jérôme Stirnemann

1

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26 July 2017

Dalil Hamroun

3

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26 July 2017

Djazia Heraoui

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Linda Rossi-Semerano

5

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Marc G Berger

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Christian Rose

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Fabrice Camou

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Christine de Roux-Serratrice

9

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Bernard Grosbois

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Pierre Kaminsky

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Alain Robert

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Catherine Caillaud

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Roselyne Froissart

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Thierry Levade

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Agathe Masseau

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Cyril Mignot

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Frédéric Sedel

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26 July 2017

Dries Dobbelaere

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Marie T Vanier

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Vassili Valayanopoulos

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Olivier Fain

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Bruno Fantin

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Nadia Belmatoug

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26 July 2017

9 October 2012

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Orphanet Journal of Rare Diseases

26 July 2017

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7

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26 July 2017

77

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-77

26 July 2017

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21 June 2018

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21 June 2018

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Bone events and evolution of biologic markers in Gaucher disease before and during treatment

21 June 2018

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Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

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Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

21 June 2018

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Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

21 June 2018

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Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature

21 June 2018

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Lysosomal storage disorders in the newborn

21 June 2018

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Life expectancy in Gaucher disease type 1

21 June 2018

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

21 June 2018

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Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

21 June 2018

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Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

21 June 2018

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Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system

21 June 2018

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

21 June 2018

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Substrate reduction therapy of glycosphingolipid storage disorders.

21 June 2018

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

21 June 2018

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Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum

21 June 2018

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Recent clinical progress in Gaucher disease

21 June 2018

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METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

21 June 2018

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Molecular and cell biology of acid beta-glucosidase and prosaposin

21 June 2018

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

21 June 2018

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Gaucher's disease: clinical features and natural history

21 June 2018

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

21 June 2018

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Serum ferritin concentration in Gaucher's disease

21 June 2018

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Tartrate-resistant acid phosphatase staining of monocytes in Gaucher disease

21 June 2018

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Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

21 June 2018

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

21 June 2018

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Elevation of Serum Angiotensin-Converting Enzyme in Gaucher's Disease

21 June 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 June 2018

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Crossref

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A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

21 January 2018

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Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.

21 January 2018

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Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy

31 October 2018

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Perinatal-lethal Gaucher disease

21 January 2018

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12 December 2020

Effect of enzyme replacement therapy on gammopathies in Gaucher disease

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12 December 2020

beta-Glucosidase assays in the diagnosis of Gaucher's disease

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12 December 2020

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12 December 2020

Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease

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12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

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12 December 2020

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

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12 December 2020

Clinical and molecular characteristics of Japanese Gaucher disease

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12 December 2020

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12 December 2020

Elevation of serum acid phosphatase in Gaucher's disease

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12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

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12 December 2020

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-77

1 reference

Dimensions Publication ID

26 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-77

9 September 2019

1 reference

26 July 2017

1 reference