Hematological manifestations and complications of Gaucher disease

Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data

(2021) Majdolen Istaiti et al.   AMERICAN JOURNAL OF HEMATOLOGY

Assessment of cellular cobalamin metabolism in Gaucher disease

(2020) Suelen Porto Basgalupp et al.   BMC Medical Genetics

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

(2020) Yann Nguyen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The definition of neuronopathic Gaucher disease

(2020) Raphael Schiffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

(2020) Tae-Un Han et al.   Frontiers in Cell and Developmental Biology

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

(2020) Claudia Cozma et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

(2020) Shoshana Revel-Vilk et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

(2020) Marcio M. Andrade-Campos et al.   Orphanet Journal of Rare Diseases

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

(2020) Tama Dinur et al.   Orphanet Journal of Rare Diseases

Guest Editor: G. Castaman GENE THERAPY FOR HEMOPHILIA: FACTS AND QUANDARIES IN THE 21ST CENTURY

(2020) Bhavya S Doshi et al.   Mediterranean Journal of Hematology and Infectious Diseases

A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact

(2020) Ari Zimran et al.   Hematology-American Society of Hematology Education Program

Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector

(2020) Maria Dahl et al.   Molecular Therapy-Methods & Clinical Development

Venglustat in adult Gaucher disease type 3: Preliminary safety, pharmacology, and exploratory efficacy from a phase 2 trial in combination with imiglucerase (LEAP)

(2019) Raphael Schiffmann et al.   MOLECULAR GENETICS AND METABOLISM

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

(2019) Noa Hurvitz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Gaucher Disease in Bone: From Pathophysiology to Practice

(2019) Derralynn Hughes et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

(2019) Dinur et al.   Journal of Clinical Medicine

Platelet function defects in patients with Gaucher disease on long term ERT- implications for evaluation at bleeding challenges

(2019) Veroniki Komninaka et al.   BLOOD CELLS MOLECULES AND DISEASES

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

(2019) Małgorzata Kałużna et al.   Orphanet Journal of Rare Diseases

MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association

(2018) Neal J. Weinreb et al.   BLOOD

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4 years in phase 3 trials

(2018) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

(2018) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project

(2018) Pilar Giraldo et al.   BLOOD CELLS MOLECULES AND DISEASES

Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy

(2018) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Therapeutic position of eliglustat

(2018) Timothy M. Cox et al.   BLOOD CELLS MOLECULES AND DISEASES

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

(2018) Pramod K. Mistry et al.   BLOOD CELLS MOLECULES AND DISEASES

How we manage Gaucher Disease in the era of choices

(2018) Shoshana Revel-Vilk et al.   BRITISH JOURNAL OF HAEMATOLOGY

An unexpected player in Gaucher disease: The multiple roles of complement in disease development

(2018) Manoj K. Pandey et al.   SEMINARS IN IMMUNOLOGY

Bone loss and hematological malignancies in adults: a pilot study

(2018) Rosa Ruchlemer et al.   SUPPORTIVE CARE IN CANCER

Splenectomy in Gaucher Disease

(2018) Michael R. Freund et al.   SURGICAL LAPAROSCOPY ENDOSCOPY & PERCUTANEOUS TECHNIQUES

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative

(2018) Atul Mehta et al.   INTERNAL MEDICINE JOURNAL

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

(2017) Nadia Belmatoug et al.   European Journal of Internal Medicine

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

(2017) Atul Mehta et al.   MOLECULAR GENETICS AND METABOLISM

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease

(2017) Elma Aflaki et al.   NEURON

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

(2016) Manisha Balwani et al.   MOLECULAR GENETICS AND METABOLISM

Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma

(2016) Shiny Nair et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

(2016) Aya Narita et al.   Annals of Clinical and Translational Neurology

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

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

Congenital Factor XI Deficiency: An Update

(2013) Stefano Duga et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

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

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

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

Animal models for Gaucher disease research

(2011) T. Farfel-Becker et al.   Disease Models & Mechanisms

Hyperferritinemia and iron overload in type 1 Gaucher disease

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

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

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

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