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Clinical Expertise in Genetic Disorders

Raphael Schiffmann et al.
April 03, 2020

The definition of neuronopathic Gaucher disease

The fact that many lysosomal storage disorders may have a neurological component is incompletely understood. Clinical studies on this topic therefore require clear definitions of eligible patient cohorts. A panel of world-leading experts, which included CENTOGENE’s CEO Prof. Dr. Arndt Rolfs, has developed corresponding guidelines for Gaucher disease. These guidelines were published in the Journal of Inherited Metabolic Disease.