Revised recommendations for the management of Gaucher disease in children

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

(2011) A. Zimran et al.   BLOOD

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool

(2011) Elin Haf Davies et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity

(2010) N. Gupta et al.   BLOOD CELLS MOLECULES AND DISEASES

Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease

(2010) D. Elstein et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2010) Pramod K. Mistry et al.   BLOOD CELLS MOLECULES AND DISEASES

Clinical and genetic characteristics of Korean patients with Gaucher disease

(2010) Seon-Yong Jeong et al.   BLOOD CELLS MOLECULES AND DISEASES

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

(2010) Ichraf Kraoua et al.   BRAIN & DEVELOPMENT

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

(2010) Karen B Müller et al.   Diagnostic Pathology

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

(2010) Anna Tylki-Szymańska 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

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

(2010) Jerome Stirnemann et al.   ARTHRITIS RESEARCH & THERAPY

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

(2009) Kai-Ling Chang et al.   BLOOD CELLS MOLECULES AND DISEASES

Attitudes of couples identified through screening as carriers of Gaucher disease type 1

(2009) S Zuckerman et al.   CLINICAL GENETICS

Management of neuronopathic Gaucher disease: Revised recommendations

(2009) A. Vellodi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

(2009) Andres H. Pena et al.   PEDIATRIC RADIOLOGY

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1

(2008) H. Andersson et al.   PEDIATRICS