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[Diagnosis recommendations for late-onset Pompe disease].
Brito-Avô L, Alves JD, Costa JM, Valverde A, Santos L, Araújo F, Aguiar P, Marinho A, Oliveira A, Gomes D. Brito-Avô L, et al. Among authors: aguiar p. Acta Med Port. 2014 Jul-Aug;27(4):525-9. Epub 2014 Aug 29. Acta Med Port. 2014. PMID: 25203965 Free article. Portuguese.
[Subvalvular aortic stenosis associated with 8p23 deletion].
Aguiar P, Cruz D, Ferro Rodrigues R, Araújo F, Ducla Soares JL. Aguiar P, et al. Rev Port Cardiol. 2013 Feb;32(2):153-7. doi: 10.1016/j.repc.2012.05.025. Epub 2013 Jan 24. Rev Port Cardiol. 2013. PMID: 23352459 Free article. Portuguese.
Hypocalcemic cardiomyopathy.
Aguiar P, Cruz D, Ferro Rodrigues R, Peixoto L, Araújo F, Ducla Soares JL. Aguiar P, et al. Rev Port Cardiol. 2013 Apr;32(4):331-5. doi: 10.1016/j.repc.2012.08.008. Epub 2013 Apr 10. Rev Port Cardiol. 2013. PMID: 23582987 Free article. English, Portuguese.
[Is it Fabry Disease? Diagnostic and Follow-Up Approach].
Beirao I, Cabrita A, Torres M, Silva F, Aguiar P, Gomes AM. Beirao I, et al. Among authors: aguiar p. Acta Med Port. 2016 Feb;29(2):85-7. doi: 10.20344/amp.6468. Epub 2016 Feb 29. Acta Med Port. 2016. PMID: 27234946 Free article. Portuguese. No abstract available.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: aguiar p. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
Pereira CS, Pérez-Cabezas B, Ribeiro H, Maia ML, Cardoso MT, Dias AF, Azevedo O, Ferreira MF, Garcia P, Rodrigues E, Castro-Chaves P, Martins E, Aguiar P, Pineda M, Amraoui Y, Fecarotta S, Leão-Teles E, Deng S, Savage PB, Macedo MF. Pereira CS, et al. Among authors: aguiar p. Front Immunol. 2019 Jun 4;10:1264. doi: 10.3389/fimmu.2019.01264. eCollection 2019. Front Immunol. 2019. PMID: 31214199 Free PMC article.
667 results