Rare Diseases

Current bibliography for experts

Gaucher

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

The importance of glucosylsphingosine (lyso-Gb1) was assessed in this systematic literature review, as a biomarker for the diagnosis, prognosis, and disease / treatment monitoring of patients with GD. Lyso-Gb1 was found to be a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Although some evidence supports lyso-Gb1 as a disease-monitoring and prognostic biomarker, further study is required.

Rare Diseases

A rare disease is any disease that affects a small percentage of the population. There is no single, unanimously accepted definition of the term. In the United States, a rare disease is classified as any disease that affects less than 200,000 Americans in total, whereas in Europe it is defined as diseases or disorders that affect less than 1 in 2000 people.
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