250 cases of “type 2 Gaucher disease”: A novel system of clinical categorisation and evidence of genotype: Phenotype correlation

Abstract excerpt

'Type 2' Gaucher disease, also referred to as 'acute neuronopathic' or 'infantile' Gaucher disease is an aggressive subtype of Gaucher disease, resulting from pathogenic variants in GBA1. The spectrum of phenotype ranges from hydropic perinatal presentations to an infantile disease characterised by rapid neurodegeneration. Increasingly, reports are offered of patients who survive into childhood, and it is unclear...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Carbohydrate Chemistry and Synthesis
• Share to Cellular transport and secretion
• Share to Lysosomal Storage Disorders Research