Background: Despite an increase in the number of therapies available to treat patients with
immune thrombocytopenia (ITP), there are minimal data from randomized trials to assist …

Over the last decade, there have been numerous developments and changes in treatment
practices for the management of patients with immune thrombocytopenia (ITP). This article is …

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation
and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent …

Objectives: The objectives of this research were:(1) to heighten awareness of Gaucher
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …

The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the
deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive …

Childhood dementia is a devastating and under-recognized group of disorders with a high
level of unmet need. Typically monogenic in origin, this collective of individual …

Background: Gaucher disease (GD) is a rare lysosomal storage disorder classically
subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is …

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during
adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an …