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

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 pathogenic variants in GBA1 which codes for glucocerebrosidase, an enzyme involved in the cat...

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Main Authors: Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919301545

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http://www.sciencedirect.com/science/article/pii/S2214426919301545

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