WORLDSymposium 2021

The aim of this multicenter, prospective analysis was to determine the long-term outcomes of treatment of MPS VI patients with galsulfase beginning in infancy.

A true diagnosis of Fabry disease may be delayed or the condition may be completely misdiagnosed, as it often masquerades as a rheumatological disease.

Currently, there are no approved treatments for MLD, a lysosomal storage disease caused by a deficiency in arylsulfatase A.

Patients with Gaucher disease do not appear to be at increased risk for SARS-CoV-2 infection, according to findings presented at the 17th Annual WORLDSymposium.

In preclinical studies, hydroxypropyl beta cyclodextrin has been shown to transport cholesterol from cells, normalizing cholesterol metabolism.

GD3 is a chronic neuropathic form of Gaucher disease characterized by progressive encephalopathy.

The extension study included a total of 84 adult FD patients who completed the FACETS, ATTRACT, or AT1001-041 study.

ASMD is a rare, debilitating lysosomal storage disease characterized by a deficiency of the enzyme acid sphingomyelinase, which results in the accumulation of sphingomyelin in various tissues of the body.

The patient, who was initially diagnosed with Gaucher disease type 1 during her first pregnancy 20 years prior, presented with bleeding, hematomas, and thrombocytopenia, in addition to hepatomegaly, splenomegaly, and bone marrow infiltration.

Arimoclomol is a small molecule designed to amplify and sustain the cellular production of heat shock proteins, particularly HSP70, which targets protein misfolding and improves lysosomal function.