Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Autor: Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims t

Externí odkaz: https://doaj.org/article/5ddb85e2ab024e2882a3db291e0ae0d1

MEDIDAS PREVENTIVAS PARA EVITAR ÚLCERAS POR PRESSÃO NA FACE EM DOENTES SUBMETIDOS A VENTILAÇÃO NÃO INVASIVA, EM CONTEXTO HOSPITALAR

Autor: Marlene Pires, Maria Antónia Costa

Publikováno v: Revista Ibero-Americana de Humanidades, Ciências e Educação. 8:115-127

Enquadramento: Na procura permanente pela excelência do exercício profissional, o Enfermeiro contribui para a máxima eficácia e eficiência na organização dos Cuidados de Enfermagem, tendo como dever manter-se atualizado sobre as várias práti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::96249192727d59fa1d239ea127e6bf5a
https://doi.org/10.51891/rease.v8i10.7016

Síndrome de Behçet em idade pediátrica

Autor: Ana Raquel Mendes, Sandrina Braga, Catarina Vilarinho, Maria Antónia Costa, Cristina Ferreira, Teresa São Simão

Publikováno v: NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 29 No. 2 (2020); 121-125
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; vol. 29 n.º 2 (2020); 121-125
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 29 N.º 2 (2020); 121-125
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
Nascer e Crescer, Vol 29, Iss 2, Pp 121-125 (2020)

Introduction: Behçet's syndrome is a systemic vasculitis characterized by recurrent oral and/or genital ulcers, and several systemic manifestations. The authors describe the case of a pediatric-onset Behçet's syndrome. Case report: An 11-year-old b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d565d56ba4e2611ac24564acd56a069
https://hdl.handle.net/10400.16/2421

Racial Disparities in the Treatment of Acute Myeloid Leukemia. ELN Risk Stratification Analysis of Overall Survival According to Race

Autor: Akabane, Hugo, Akabane, Maria Antonia Costa Cruz ^*, Wangjam, Tamna

Publikováno v: In Blood 15 November 2022 140 Supplement 1:11644-11645

Comparison of a computer system evaluation of intrapartum cardiotocographic events and a consensus of clinicians

Autor: Maria Antónia Costa, João Bernardes, Diogo Ayres-de-Campos, Cristina Santos, Ana P Machado

Publikováno v: Journal of perinatal medicine. 38(2)

Aims: To compare between computer analysis of intrapartum cardiotocography (CTG) features by the Omniview-SisPorto® 3.5 and a consensus of clinicians. Methods: Agreement study using 50 consecutively acquired tracings (206 h of signals) with > 60 min

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae952430f6bf93fe9a93c35f28f605ed
https://pubmed.ncbi.nlm.nih.gov/20121542