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Maria Dulce da Silva Quelhas
AuthID:
R-00H-H5F
Publications
Confirmed
To Validate
Document Source:
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Document Type:
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Article (3)
Review (2)
Editorial Material (1)
Article in Press (1)
Year Start - End:
2017
2018
2019
2020
2021
2022
2023
2024
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2024
2023
2022
2021
2020
2019
2018
2017
Order:
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Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
20
30
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Confirmed Publications: 7
1
TITLE:
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts
Full Text
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:
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
3
TITLE:
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?
Full Text
AUTHORS:
Quelhas, Dulce
;
Jaeken, Jaak
;
Azevedo, Luisa
;
PUBLISHED:
2022
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN:
Scopus
WOS
4
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
5
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
6
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
7
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
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