Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages-Reference-Cited by-同舟云学术

Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages

Published:2022-08-16 Issue:9 Volume:35 Page:2437-2440
ISSN:1724-6059
Container-title:Journal of Nephrology
language:en
Short-container-title:J Nephrol

Author:

Martin Choua,Pablo Neumann,Pedro Quieto,Paula Rozenfeld^ORCID,Martin Choua,Pablo Neumann,Pedro Quieto,Bruno Lococo,Manuel Abascal Juan,Jorge Abdala,Alejandra Aguerre Maria,Arturo Arias,Oscar Alvarez,Walter Bonfanti,Dennis Bueno,Monica Calvo,Carlos Casas,Raul Cejas,Daniel D’errico,Carlos Espeche Juan,Carlos Fernandez Juan,Pablo Fernandez,Segundo Fernandez,Rolando Feuli,Carlos Fragueiro,Laura Gil,Maria Gini,Carlos Gutierrez,Anibal Gastaldi,Carlos Lara,Silvina Liziardi,Lidia Lludgar Maria,Silvia Mattausch,Alicia Marini,Alfonso Martinez,Nora Marchetta,Sandra Mendez,Jose Moreno,Adriana Petros,Silvina Priori,Roque Querci,Rosa Ramirez Maria,Nicolas Ricobelli,Beatriz Segovia,Javier Sena,Cristina Stepanenko,Luis Urtiaga,Vanesa Vazquez,Paula Rozenfeld^ORCID,

Funder

AADELFA

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

https://link.springer.com/content/pdf/10.1007/s40620-022-01405-x.pdf

Reference10 articles.

1. Eng CM et al (1994) Fabry disease: twenty-three mutations including sense and antisense CPG alterations and identification of a deletional hot-spot in the α-galactosidase A gene. Hum Mol Genet 3:1795–1799

2. Arends M et al (2017) Characterization of classical and nonclassical fabry disease: a multicenter study. J Am Soc Nephrol 28:1631–1641

3. Marchesoni CL et al (2010) Misdiagnosis in Fabry disease. J Pediatr 156:828–831

4. Donehy D et al (2018) Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 55(4):261–268

5. Capuano I et al (2019) Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995–2019. J Nephrol 33:569–581

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