Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants inGBA1which codes for glucocerebrosidase, an enzyme involved in the cataboli...

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Bibliographic Details
Main Author: Paskulin, Lívia D'Avila (author)
Other Authors: Starosta, Rodrigo Tzovenos (author), Zizemer, Vitória Schütt (author), Basgalupp, Suelen Porto (author), Bertholdo, Débora (author), Vairo, Filippo Pinto e (author), Siebert, Marina (author), Tirelli, Kristiane Michelin (author), Schwartz, Ida Vanessa Doederlein (author)
Format: other article
Language:eng
Published: 2021
Subjects:
Genótipo
Fenótipo
Doença de Gaucher
Doenças ósseas
Gaucher disease
GBA1
Bone disease
Genotype
Phenotype
Online Access:http://hdl.handle.net/10183/232194
Country:Brazil
Oai:oai:www.lume.ufrgs.br:10183/232194

Internet

http://hdl.handle.net/10183/232194

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