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Turning Rare Disease Networks into Knowledge

Paskal Cullufi et al.
Januar 20, 2021

Genetic characterization of the Albanian Gaucher disease patient population

CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE is meanwhile the primary nationwide GD partner in many countries enables unprecedented insights into local prevalence, genotypes, and phenotypes. As an example, CENTOGENE recently described the Albanian GD population in the Journal of Inherited Metabolic Diseases Reports.