Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard

(2015) Mina Mirzaian et al.   BLOOD CELLS MOLECULES AND DISEASES

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

(2015) Pramod K. Mistry et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial

(2015) Timothy M Cox et al.   LANCET

Results from a 9-year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)-treated patients

(2015) Monika Brand et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy

(2014) L. van Dussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned

(2014) L. van Dussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy

(2014) Elena V Pavlova et al.   JOURNAL OF PATHOLOGY

Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications

(2014) Laura van Dussen et al.   Orphanet Journal of Rare Diseases

A systematic review on effectiveness and safety of eliglustat for type 1 Gaucher disease

(2014) Bouwien E Smid et al.   Expert Opinion on Orphan Drugs

Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses

(2013) Maria J. Ferraz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study

(2013) David J. Kuter et al.   BLOOD CELLS MOLECULES AND DISEASES

Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature

(2013) Maarten Arends et al.   BRITISH JOURNAL OF HAEMATOLOGY

B cell lymphoma and myeloma in murine Gaucher's disease

(2013) EV Pavlova et al.   JOURNAL OF PATHOLOGY

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

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

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

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

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

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

(2010) Nick Dekker et al.   BLOOD CELLS MOLECULES AND DISEASES

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

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

(2009) Anton P. Bussink et al.   FEBS Journal

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

(2009) P. Giraldo et al.   HAEMATOLOGICA

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy

(2008) M. de Fost et al.   HAEMATOLOGICA

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

(2008) J. Cox-Brinkman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance

(2007) Mirjam Langeveld et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM