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Esmeralda Emilia Gomes Martins
AuthID:
R-00J-QTW
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Document Source:
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Document Type:
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Article (73)
Review (5)
Book Chapter (4)
Letter (2)
Note (2)
Proceedings Paper (2)
Article in Press (2)
Correction (2)
Abstract (1)
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Order:
Year Dsc
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Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Title Dsc
Results:
10
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Confirmed Publications: 93
1
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
2
TITLE:
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era
Full Text
AUTHORS:
Baldo, Manuela Schubert; Nogueira, Celia; Pereira, Cristina; Janeiro, Patricia; Ferreira, Sara;
Lourenco, Charles M.
;
Bandeira, Anabela
;
Martins, Esmeralda
; Magalhaes, Marina; Rodrigues, Esmeralda; Santos, Helena;
Ferreira, Ana Cristina
;
Vilarinho, Laura
;
PUBLISHED:
2023
,
SOURCE:
GENES,
VOLUME:
14,
ISSUE:
8
INDEXED IN:
Scopus
WOS
3
TITLE:
Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?
AUTHORS:
Moreira Silva, Helena
; Ferreira, Sandra; Almeida, Manuela; Goncalves, Isabel; Cipriano, Maria Augusta; Vizcaino, J. R.; Santos Silva, Ermelinda;
Gomes Martins, Esmeralda
;
PUBLISHED:
2022
,
SOURCE:
FRONTIERS IN PEDIATRICS,
VOLUME:
10
INDEXED IN:
Scopus
WOS
4
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
5
TITLE:
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses
AUTHORS:
Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcao, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A;
Martins, E
; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A;
Janeiro, P;
Amorim, Antonio
;
Vilarinho, L;
...More
PUBLISHED:
2021
,
SOURCE:
MOLECULAR GENETICS & GENOMIC MEDICINE,
VOLUME:
9,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
4
IN MY:
ORCID
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
IN MY:
ORCID
7
TITLE:
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
Full Text
AUTHORS:
Encarnacao, M;
Coutinho, MF
; Silva, L;
Ribeiro, D
; Ouesleti, S; Campos, T; Santos, H;
Martins, E
;
Cardoso, MT
;
Vilarinho, L
;
Alves, S
;
PUBLISHED:
2020
,
SOURCE:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
VOLUME:
21,
ISSUE:
17
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
8
TITLE:
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
Full Text
AUTHORS:
Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos;
Esmeralda Martins
;
Maria Teresa Cardoso
; Laura Vilarinho; Sandra Alves;
PUBLISHED:
2020
,
SOURCE:
International Journal of Molecular Sciences,
VOLUME:
21,
ISSUE:
17
INDEXED IN:
CrossRef
:
4
IN MY:
ORCID
9
TITLE:
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Full Text
AUTHORS:
Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K;
Gruenert, S;
Lund, AM;
Morales Conejo, M;
del Toro Riera, M;
Aldamiz Echevarria, L;
Garcia Silva, MT;
Schiff, M;
Gouya, L;
Labrune, P;
de Lonlay, P;
Belmatoug, N;
Germain, DP;
Cano, A;
Dobbelaere, D;
Jones, S;
Dawson, C;
Deegan, P;
Santra, S;
Vijay, S;
Ramadza, DP;
Baric, I;
Zigman, T;
Pflieger, G;
Szakszon, K;
Kaposta, R;
Gasperini, S;
Burlina, A;
Parenti, G;
Strisciuglio, P;
Ceccarini, G;
Federico, A;
Simonati, A;
Tumiene, B;
Huidekoper, H;
van Spronsen, F;
Bosch, A;
Rubio Gozalbo, ME;
Visser, G;
Tangeraas, T;
Aarsand, A;
Kiec Wilk, B;
Gaspar, AMSM;
Quelhas, D;
Leao Teles, E;
Azevedo, O;
Silva, EMFR;
Matos, LMDFD;
Martins, E
;
Lajic, S;
Darin, N;
Groselj, U;
Tansek, MZ;
...More
PUBLISHED:
2020
,
SOURCE:
ORPHANET JOURNAL OF RARE DISEASES,
VOLUME:
15,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
10
TITLE:
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Full Text
AUTHORS:
Čechová, A; Altassan, R; Borgel, D; Bruneel, A; Correia, J; Girard, M; Harroche, A; Kiec Wilk, B; Mohnike, K; Pascreau, T;
Pawliński, Ł
; Radenkovic, S; Vuillaumier Barrot, S; Aldamiz Echevarria, L; Couce, ML;
Martins, EG
; Quelhas, D; Morava, E; de Lonlay, P; Witters, P;
Honzík, T;
...More
PUBLISHED:
2020
,
SOURCE:
Journal of Inherited Metabolic Disease,
VOLUME:
43,
ISSUE:
4
INDEXED IN:
Scopus
CrossRef
:
5
IN MY:
ORCID
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