Article
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Molecular genetics and metabolism - 1 May 2022
Weinreb Neal J, Goker-Alpan Ozlem, Kishnani Priya S, Longo Nicola, Burrow T Andrew, Bernat John A, Gupta Punita, Henderson Nadene, Pedro Helio, Prada Carlos E, Vats Divya, Pathak Ravi R, Wright Ekaterina, Ficicioglu Can
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. Many challenges associated with GD diagnosis and management arise from the considerable heterogeneity of disease presentations and natural history. Phenotypic classification has traditionally been based on the absence (in type 1 GD) or...
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