Maria Dulce da Silva Quelhas


AuthID: R-00H-H5F

Confirmed Publications: 8



1
TITLE: Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts
AUTHORS: Encarnacao, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce ; Alves, Sandra;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 11
INDEXED IN: WOS
2
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
3
TITLE: Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V
AUTHORS: Da Silva, Jorge Diogo; Pereira, Angela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Marcio; Garrido, Cristina; Soares, Celia Azevedo ; Nunes, Isabel Serra; Fortuna, Ana Maria; Quelhas, Dulce ; Figueiroa, Sonia; Ribeiro, Rosa; Santos, Manuela; Martins, Esmeralda ; Tkachenko, Nataliya ;
PUBLISHED: 2023, SOURCE: PEDIATRIC RESEARCH
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
4
TITLE: Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
AUTHORS: Quelhas, Dulce ; Jaeken, Jaak; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
5
TITLE: Assessing the effects of PMM2 variants on protein stability  Full Text
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
6
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 CrossRef: 1
IN MY: ORCID
7
TITLE: SLC35A2-CDG: Novel variant and review
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L ; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D ; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 7, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID

A place for researchers and their institutions

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service