■ Clinical management of female patients with Fabry disease based on expert consensus
Eva Brand, Aleš Linhart, Patrick Deegan, et al
Orphanet J Rare Dis. 2025; 20: 7
https://pmc.ncbi.nlm.nih.gov/articles/PMC11707893/
■ Cardiac involvement in Fabry disease: recente advances, unrresolved issues and unmet needs
Maurizio Pieroni, Chiara Zocchi, Michele Ciabatti
Eur Heart J Suppl. 2025 Feb; 27(Suppl 1): i51–i55.
https://pmc.ncbi.nlm.nih.gov/articles/PMC1183671/
■ A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta
Gavin Y. Oudit, Pronabesh DasMahapatra, Nicole Lyn, et al
Front Cardiovasc Med. 2024; 11: 1415547.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11790562/
■ Recommendations for the diagnosis and management of Fabry diseae in pediatric patients: a document from the Rare Diases Committee of the Brazilian Society of Nephrology (Comdora-SBN)
Brazilian Journal of Nefrololgy 2022, vol 44 (2): 268-280
■ Impact of enzyme replacement therapy and migalastat on disease progression in females with Fabry disease
Malte Lenders, Albina Nowak, Markus Cybulla et al
Orphanet J Rare Dis. 2025; 20: 79.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11843741/
■ Fabry disease and inflammation: potential role of p65 iso5, an isoform of the Nf-kB complex
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba et al
Cells. 2025 Feb; 14(3): 230
https://pmc.ncbi.nlm.nih.gov/articles/PMC11817417/
■ Expanded screening for Fabry disease in patients iwth chronic kidney disease not dialysis: a multicenter Italian experience
Yuri Battaglia, Federica Baciga, Meilad Shakkour, et al
Ren Fail. 2025; 47(1): 2454295
https://pmc.ncbi.nlm.nih.gov/articles/PMC11795759/
■ Lentivirus-mediated gene therapy for Fabry Disease: 5-year endo-of-study results form the Canadian FACTs trial
Aneal Khan, Dwayne L. Barber, William M. McKillop, et al
Clin Transl Med. 2025 Jan; 15(1): e70073.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11726700/
■ Prevalence of Fabry disease in patients with chronic pain: lessons from the DOUFAB and DOUFABIS studies
Chloé Angelini, Claire Bar, Marie Pierre Baudier, et al
The DOUFABIS Consortium
Eur J Pain. 2025 Jan; 29(1): e4708
https://pmc.ncbi.nlm.nih.gov/articles/PMC11609957/
■ Dizzines in Fabry Disease
Aslak Broby Johansen, Ulla Feldt-Rasmussen, Mads Klokker
Biomedicines. 2025 Feb; 13(2): 24
https://pmc.ncbi.nlm.nih.gov/articles/PMC11853341/
■ Prevalence and clinical correlates of cerebrovascular alterations in Fabry disease: a cross-sectional study
Daniele Di Natale, Salvatore Rossi, Gianmarco Dalla Zanna et al
Brain Sci. 2025 Feb; 15(2): 166
https://pmc.ncbi.nlm.nih.gov/articles/PMC11852458/
■ Doença de Fabry: Diretrizes Médicas (Fabry Disease: Guidelines)
Arquivos do Blog Internet Médica – agosto 2022
https://internetmedica.com.br/doenca-de-fabry-diretrizes-medicas-fabry-disease-guidelines/
■ Doença de Fabry (Fabry´s Disease)
Arquivos do Blog Internet Médica – agosto 2021
https://internetmedica.com.br/doenca-de-fabry-fabrys-disease/
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Março 2025