Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

667 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
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: 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.
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: aguiar p. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
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.
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Bichet DG, et al. Among authors: aguiar p. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37727761 Free PMC article.
[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.
667 results