Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

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 CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
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 CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
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 CrossRef
IN MY: ORCID | CIÊNCIAVITAE
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 | CIÊNCIAVITAE
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 | CIÊNCIAVITAE
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 | CIÊNCIAVITAE
7
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 | CIÊNCIAVITAE
8
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 | CIÊNCIAVITAE
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 | CIÊNCIAVITAE
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 | CIÊNCIAVITAE
Page 1 of 10. Total results: 93.

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