Article
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Molecular genetics and metabolism - 1 Jan 2017
El-Beshlawy Amal, Tylki-Szymanska Anna, Vellodi Ashok, Belmatoug Nadia, Grabowski Gregory A, Kolodny Edwin H, Batista Julie L, Cox Gerald F, Mistry Pramod K
Abstract excerpt
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase...
Topics
- Adolescent
- Child
- Child, Preschool
- Enzyme Replacement Therapy
- Female
- Gaucher Disease
- Glucosylceramidase
- Humans
- Male
- Mutation