ProfileOfResearchers

INDEXED IN:

Scopus

WOS

TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro ; Hugo David; Maria Francisca Coutinho; Dulce Quelhas ; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11

INDEXED IN:

CrossRef

IN MY:

ORCID

TITLE: Maturity-onset diabetes of the young in a large Portuguese cohort Full Text
AUTHORS: Monteiro, Silvia Santos; Santos, Tiago da Silva; Fonseca, Liliana; Assuncao, Guilherme; Lopes, Ana M.; Duarte, Diana B.; Soares, Ana Rita; Laranjeira, Francisco ; Ribeiro, Isaura ; Pinto, Eugenia; Rocha, Sonia; Gouveia, Sofia Barbosa; Vazquez Mosquera, Maria Eugenia; Oliveira, Maria Joao; Borges, Teresa; Cardoso, Maria Helena;
PUBLISHED: 2022, SOURCE: ACTA DIABETOLOGICA, VOLUME: 60, ISSUE: 1

INDEXED IN:

Scopus

WOS

IN MY:

ORCID

TITLE: Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Full Text
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I ; Souche, E; Race, V; Keldermans, L; Matthijs, G; Jaeken, J; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231

INDEXED IN:

Scopus

WOS

IN MY:

ORCID

TITLE: Transcriptomics profiling of Niemann-Pick type C patients: activation of the unfold protein response in a specific case
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Paulo Gaspar; Juliana I Santos; Isaura Ribeiro ; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: 15th International Symposium SPDM, Sociedade Portuguesa de Doenças Metabólicas, 14-16 mar 2019

INDEXED IN:

Handle

TITLE: Beware of fabry disease diagnosis - insights from an atypical portuguese family Full Text
AUTHORS: Isaura Ribeiro ; Elisabete Silva; Eugenia Pinto; Fernanda Pinto; Sonia Rocha; Celia Ferreira; Helena Ribeiro; Sandra Jacinto; Diana Antunes; Ana C Ferreira; Dulce Quelhas; Francisco Laranjeira; Carla Caseiro; Lucia Lacerda;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10

INDEXED IN:

WOS

Useful Links