TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clini...

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Bibliographic Details
Main Authors: Violeta Streanga, Cristina Jitareanu, Irina M. Ciomaga, Doina Mihaila, Nicolai Nistor
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2015-09-01
Series:Romanian Journal of Pediatrics
Subjects:
lysosomal storage disorder
type 2 gaucher disease
neurological manifestations
hepatosplenomegaly
glucocerebrosidase activity
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-12.pdf

Internet

https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-12.pdf

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