Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1-Reference-Cited by-同舟云学术

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

Published:2019-12 Issue: Volume:21 Page:100544
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

d'Avila Paskulin Livia,Starosta Rodrigo Tzovenos,Zizemer Vitória Schütt,Basgalupp Suélen,Bertholdo Débora,Vairo Filippo Pinto e,Siebert Marina,Michelin-Tirelli Kristiane,Schwartz Ida Vanessa Doederlein

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fundo de Incentivo à Pesquisa e Eventos

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference26 articles.

1. Phenotype, diagnosis, and treatment of Gaucher’s disease;Grabowski;Lancet,2008

2. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages;Boven;Am. J. Clin. Pathol.,2004

3. The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease;Koppe;Genet. Mol. Biol.,2016

4. How we manage Gaucher disease in the era of choices;Revel-Vilk;Br. J. Haematol.,2018

5. Eliglustat: First global approval;Poole;Drugs,2014

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Bone manifestations in patients with Gaucher disease type 1 in southwestern Colombia;2024-06-07

2. GBA1 variants in Brazilian Gaucher disease patients;Molecular Genetics and Metabolism Reports;2023-12

3. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence;Orphanet Journal of Rare Diseases;2022-10-17

4. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus;Molecular Genetics and Metabolism;2022-02

5. Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment;Blood Cells, Molecules, and Diseases;2021-09