Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

(2022) Neal J. Weinreb et al.   MOLECULAR GENETICS AND METABOLISM

Update of treatment for Gaucher disease

(2022) Weijing Kong et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

(2022) A. Dardis et al.   Orphanet Journal of Rare Diseases

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

(2021) Uma Ramaswami et al.   MOLECULAR GENETICS AND METABOLISM

Splenomegaly in Children and Adolescents

(2021) Meinolf Suttorp et al.   Frontiers in Pediatrics

The definition of neuronopathic Gaucher disease

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

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers

(2020) M. Judith Peterschmitt et al.   Clinical Pharmacology in Drug Development

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

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

(2018) Maciej Machaczka et al.   BLOOD CELLS MOLECULES AND DISEASES

Gaucheromas: When macrophages promote tumor formation and dissemination

(2018) Margarita Ivanova et al.   BLOOD CELLS MOLECULES AND DISEASES

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

(2017) Jérôme Stirnemann et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

(2014) Maja Di Rocco et al.   PEDIATRIC BLOOD & CANCER

Revised recommendations for the management of Gaucher disease in children

(2012) Paige Kaplan et al.   EUROPEAN JOURNAL OF PEDIATRICS

Imaging Findings in Pediatric Type 1 Gaucher Disease

(2011) Brian A. Green et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

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

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

(2008) H. Andersson et al.   PEDIATRICS