Related Experiment Video
Updated: Aug 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Survey of hematological aspects of Gaucher disease
Ari Zimran1, Gheona Altarescu, Bernard Rudensky
1Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel.
Insights
Hematologists manage Gaucher disease (GD), a rare genetic disorder. This review examines changes and constants in hematological aspects of GD since targeted therapies became available.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Gaucher disease (GD) is a lysosomal storage disorder with significant hematological manifestations.
- Hematologists have traditionally managed patients with GD.
- Therapeutic advances have become available in the last 15 years.
Purpose of the Study:
- To review the evolution of hematological signs and symptoms in Gaucher disease.
- To assess changes and constants in GD hematology since the advent of therapy.
Main Methods:
- Literature review focusing on hematological aspects of Gaucher disease.
- Analysis of studies published over the last 15 years.
Main Results:
- The review highlights persistent hematological features of Gaucher disease.
- It also identifies shifts in the presentation and management of these features post-therapy.
Conclusions:
- Hematological expertise remains crucial for Gaucher disease management.
- Understanding the dynamic nature of hematological signs is key for optimal patient care.
Abstract:
Hematologists have classically been the treating physicians of patients with Gaucher disease, and today, despite both specific and symptomatic therapeutic advances, they remain at the forefront of specialists to whom patients with Gaucher disease present. It is therefore appropriate to review that has changed and what has remained the same in hematological signs and symptoms of the disease in the decade and a half since therapy has become available.
More Related Videos
10:28Flow Cytometry-based Drug Screening System for the Identification of Small Molecules That Promote Cellular Differentiation of Glioblastoma Stem Cells
Published on: January 10, 2018
07:45An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Related Concept Videos
Lysosomal Hydrolases
Jaundice
Hematopoiesis