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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago MF, Dias F, Martins A, Rodrigues J, Reimão P, Pereira O, Simões S, Lopes E, Guimarães MJ, Sousa N, Cunha D. Azevedo O, et al. Among authors: guimaraes mj. Mol Genet Metab. 2020 Feb;129(2):150-160. doi: 10.1016/j.ymgme.2019.07.012. Epub 2019 Jul 24. Mol Genet Metab. 2020. PMID: 31519519 Free article.
Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation.
Azevedo O, Gago MF, Miltenberger-Miltenyi G, Robles AR, Costa MA, Pereira O, Vide AT, Castelo Branco G, Simões S, Guimarães MJ, Salgado A, Sousa N, Cunha D. Azevedo O, et al. Among authors: guimaraes mj. Mol Genet Metab Rep. 2020 Feb 15;22:100565. doi: 10.1016/j.ymgmr.2020.100565. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 32099817 Free PMC article.
Subcutaneous granuloma annulare induced by acetazolamide.
Guimaraes MJ, Gomes J, Caldas R, Almeida F, Brito C. Guimaraes MJ, et al. Pediatr Dermatol. 2020 Nov;37(6):1181-1182. doi: 10.1111/pde.14347. Epub 2020 Sep 6. Pediatr Dermatol. 2020. PMID: 32892341
Sturge-Weber Syndrome: An Extensive Cutaneous Presentation.
Caldas R, Guimarães M, Ferreira O. Caldas R, et al. Acta Med Port. 2021 May 2;34(5):387. doi: 10.20344/amp.12671. Epub 2021 May 3. Acta Med Port. 2021. PMID: 34253280 Free article. No abstract available.
Transgrediens Form of Pachydermodactyly.
Guimaraes MJ, Vieira AP. Guimaraes MJ, et al. J Cutan Med Surg. 2023 Jul-Aug;27(4):419. doi: 10.1177/12034754231170610. Epub 2023 Apr 25. J Cutan Med Surg. 2023. PMID: 37097113 No abstract available.
Colostomy Bag-Induced Koebner Phenomenon.
Caldas R, Guimarães MJ, Pereira T. Caldas R, et al. Among authors: guimaraes mj. JAMA Dermatol. 2020 Jul 1;156(7):805. doi: 10.1001/jamadermatol.2020.1077. JAMA Dermatol. 2020. PMID: 32459290 No abstract available.
Importance of cardiac implantable eletronic devices in the diagnosis of Sleep Apnea Syndrome.
Ribeiro S, Bonito L, Guimarães MJ, Português J, Rodrigues B, Alves A, Durães C, Ferreira D, Sanfins V, Lourenço A. Ribeiro S, et al. Among authors: guimaraes mj. Rev Port Cardiol (Engl Ed). 2019 Jun;38(6):451-455. doi: 10.1016/j.repc.2018.06.002. Epub 2019 Jul 15. Rev Port Cardiol (Engl Ed). 2019. PMID: 31320221 Free article. English, Portuguese.
Generalised papular variant of elastolytic giant cell granuloma.
Caldas R, Guimarães MJ, Rodrigues AP, Araújo C. Caldas R, et al. Among authors: guimaraes mj. BMJ Case Rep. 2019 Dec 16;12(12):e231580. doi: 10.1136/bcr-2019-231580. BMJ Case Rep. 2019. PMID: 31848138 Free PMC article.
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