Gaucher disease: haematological presentations and complications

B cell lymphoma and myeloma in murine Gaucher's disease

(2013) EV Pavlova et al.   JOURNAL OF PATHOLOGY

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Liver Fibrosis in Type I Gaucher Disease: Magnetic Resonance Imaging, Transient Elastography and Parameters of Iron Storage

(2013) Anneloes E. Bohte et al.   PLoS One

A Prospective Study of Bone Marrow Hematopoietic and Mesenchymal Stem Cells in Type 1 Gaucher Disease Patients

(2013) Séverine Lecourt et al.   PLoS One

Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study

(2012) Derlis E. Gonzalez et al.   AMERICAN JOURNAL OF HEMATOLOGY

Globoside promotes activation of ERK by interaction with the epidermal growth factor receptor

(2012) Seung-Yeol Park et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

(2012) M. Franco et al.   BLOOD

Familial monoclonal gammopathy of undetermined significance and multiple myeloma: epidemiology, risk factors, and biological characteristics

(2012) A. J. Greenberg et al.   BLOOD

Markers of coagulation activation and enhanced fibrinolysis in Gaucher type 1 patient: Effects of enzyme replacement therapy

(2012) Mirjana Mitrovic et al.   BLOOD CELLS MOLECULES AND DISEASES

Diagnosing Gaucher disease: An on-going need for increased awareness amongst haematologists

(2012) A.S. Thomas et al.   BLOOD CELLS MOLECULES AND DISEASES

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Gammopathy and B lymphocyte clonality in patients with Gaucher type I disease

(2012) Predrag Rodic et al.   BLOOD CELLS MOLECULES AND DISEASES

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

(2012) Carla E. M. Hollak et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2012) Aneal Khan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

(2012) Michael W.J. Cleeter et al.   NEUROCHEMISTRY INTERNATIONAL

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

(2012) Timothy M Cox et al.   Orphanet Journal of Rare Diseases

Gaucher disease gene GBA functions in immune regulation

(2012) J. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

(2011) N. Dekker et al.   BLOOD

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

(2011) A. Zimran et al.   BLOOD

Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding

(2011) Galia Spectre et al.   BRITISH JOURNAL OF HAEMATOLOGY

Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease

(2011) N. GIVOL et al.   HAEMOPHILIA

Hyperferritinemia and iron overload in type 1 Gaucher disease

(2010) Philip Stein et al.   AMERICAN JOURNAL OF HEMATOLOGY

Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease

(2010) Ying Sun et al.   Autophagy

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

(2010) A. Zimran et al.   BLOOD

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Gaucher disease and dysgammaglobulinemia: A report of 61 patients, including 18 with GD type III

(2010) Agnieszka Jurecka et al.   BLOOD CELLS MOLECULES AND DISEASES

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

(2010) I. Ron et al.   HUMAN MOLECULAR GENETICS

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy

(2010) Philip Stein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

(2010) P. K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

(2009) Tamar H. Taddei et al.   AMERICAN JOURNAL OF HEMATOLOGY

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

(2009) Pramod K. Mistry et al.   BRITISH JOURNAL OF HAEMATOLOGY

Multiple myeloma and Gaucher genes

(2009) Barry E Rosenbloom et al.   GENETICS IN MEDICINE

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) M. de Fost et al.   ANNALS OF HEMATOLOGY

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

(2008) C. Fairley et al.   JOURNAL OF INHERITED METABOLIC DISEASE