Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives-Reference-Cited by-同舟云学术

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Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives

Published:2022 Issue: Volume:10 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Giugliani Roberto¹,Marques Sandra²,Andrade Luis G. M. de³,Pessoa André⁴,Vaisbich Maria H.⁵,Blum Angélica⁶,Tenório Fernanda⁶,Rosa Neto Nilton S⁷^ORCID

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

2. Instituto Hospital de Base do Distrito Federal, Brazil

3. Universidade Estadual Paulista, Brazil

4. Hospital Infantil Albert Sabin, Brazil; Universidade Estadual do Ceará, Brazil

5. Universidade Federal de São Paulo, Brazil; Universidade de São Paulo (HCFMUSP), Brazil

6. Takeda Pharmaceutical Company, Brazil

7. Quíron Reumatologia, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

http://www.scielo.br/pdf/jiems/v10/2326-4594-jiems-10-e20210028.pdf

Reference89 articles.

1. Fabry’s disease;El-Abassi R;J Neurol Sci,2014

2. Characterization of classical and nonclassical fabry disease: a multicenter study;Arends M;J Am Soc Nephrol,2017

3. Fabry disease: genetics, pathology, and treatment;Bernardes TP;Rev Assoc Med Bras,2020

4. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients;Germain DP;Clin Genet,2019

5. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease;Ries M;J Inherit Metab Dis,2003

Cited by 1 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. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease;Molecular Genetics and Metabolism;2023-11

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