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Page 1
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: cardoso mt. Front Immunol. 2019 Jun 4;10:1264. doi: 10.3389/fimmu.2019.01264. eCollection 2019. Front Immunol. 2019. PMID: 31214199 Free PMC article.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: cardoso mt. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R, Gaspar A, Aguiar P, Garcia P, Cardoso MT, Rodrigues E, Leão-Teles E, Giugliani R, Coutinho MF, Alves S, Macedo MF. Lopes N, et al. Among authors: cardoso mt. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Coelho AI, Ramos R, Gaspar A, Costa C, Oliveira A, Diogo L, Garcia P, Paiva S, Martins E, Teles EL, Rodrigues E, Cardoso MT, Ferreira E, Sequeira S, Leite M, Silva MJ, de Almeida IT, Vicente JB, Rivera I. Coelho AI, et al. Among authors: cardoso mt. J Inherit Metab Dis. 2014 Jan;37(1):43-52. doi: 10.1007/s10545-013-9623-1. Epub 2013 Jun 8. J Inherit Metab Dis. 2014. PMID: 23749220
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP. Oliveira JP, et al. Among authors: cardoso mt. Eur J Med Genet. 2020 Feb;63(2):103703. doi: 10.1016/j.ejmg.2019.103703. Epub 2019 Jun 11. Eur J Med Genet. 2020. PMID: 31200018
Cutaneous Angiosarcoma in an Unusual Location and Without Predisposing Factors.
Oliveira Monteiro A, Branco Ferreira I, César A, Mota A, Pinheiro J, Lopes JM, Cardoso MT. Oliveira Monteiro A, et al. Among authors: cardoso mt. Eur J Case Rep Intern Med. 2020 Sep 25;7(12):001939. doi: 10.12890/2020_001939. eCollection 2020. Eur J Case Rep Intern Med. 2020. PMID: 33313005 Free PMC article.
The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner.
Pereira CS, Ribeiro H, Pérez-Cabezas B, Cardoso MT, Alegrete N, Gaspar A, Leão-Teles E, Macedo MF. Pereira CS, et al. Among authors: cardoso mt. Mol Genet Metab. 2018 Sep;125(1-2):161-167. doi: 10.1016/j.ymgme.2018.07.005. Epub 2018 Jul 18. Mol Genet Metab. 2018. PMID: 30030044
Corneal Higher Order Aberrations and Epithelial Remodeling With Femtosecond Laser-Assisted LASIK Topography-guided and Customized Asphericity Ablation in the Contralateral Eye: A Randomized, Double-Blind, Prospective Study.
Lyra AFV, Alves EM, Montenegro AA, Parente NS, Cardoso MT, Alves LM, Maia CB, Fontes BM, Nose W. Lyra AFV, et al. Among authors: cardoso mt. J Refract Surg. 2023 Nov;39(11):751-758. doi: 10.3928/1081597X-20230925-03. Epub 2023 Nov 1. J Refract Surg. 2023. PMID: 37937761 Free article. Clinical Trial.
25 results