Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

Confirmed Publications: 93



21
TITLE: Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms  Full Text
AUTHORS: Moreira Silva, H; Maio, I; Bandeira, A; Gomes Martins, E ; Santos Silva, E;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID | CIÊNCIAVITAE
22
TITLE: Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
AUTHORS: Henriques, BJ; Lucas, TG; Martins, E ; Gaspar, A; Bandeira, A; Nogueira, C; Brandao, O; Rocha, H; Vilarinho, L; Gomes, CM;
PUBLISHED: 2019, SOURCE: CURRENT MOLECULAR MEDICINE, VOLUME: 19, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
23
TITLE: Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria  Full Text
AUTHORS: Pinto, A; Almeida, MF ; MacDonald, A; Ramos, PC; Rocha, S; Guimas, A; Ribeiro, R; Martins, E ; Bandeira, A; Jackson, R; van Spronsen, F; Payne, A; Rocha, JC ;
PUBLISHED: 2019, SOURCE: NUTRIENTS, VOLUME: 11, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID | CIÊNCIAVITAE
24
TITLE: Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry  Full Text
AUTHORS: Huemer, M; Diodato, D; Martinelli, D; Olivieri, G; Blom, H; Gleich, F; Kölker, S; Kožich, V; Morris, AA; Seifert, B; Froese, DS; Baumgartner, MR; Dionisi Vici, C; Martin, CA; Baethmann, M; Ballhausen, D; Blasco Alonso, J; Boy, N; Bueno, M; Burgos Peláez, R; Cerone, R; Chabrol, B; Chapman, KA; Couce, ML; Crushell, E; Dalmau Serra, J; Diogo, L; Ficicioglu, C; García Jimenez, MC; García Silva, MT; Gaspar, AM; Gautschi, M; González Lamuño, D; Gouveia, S; Grünewald, S; Hendriksz, C; Janssen, MCH; Jesina, P; Koch, J; Konstantopoulou, V; Lavigne, C; Lund, AM; Martins, EG ; Meavilla Olivas, S; Mention, K; Mochel, F; Mundy, H; Murphy, E; Paquay, S; Pedrón Giner, C; Ruiz Gómez, MA; Santra, S; Schiff, M; Schwartz, IV; Scholl Bürgi, S; Servais, A; Skouma, A; Tran, C; Vives Piñera, I; Walter, J; Weisfeld Adams, J; ...More
PUBLISHED: 2019, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 42, ISSUE: 2
INDEXED IN: Scopus CrossRef: 10
IN MY: ORCID | CIÊNCIAVITAE
25
TITLE: Research activity and capability in the European reference network MetabERN  Full Text
AUTHORS: Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Scarpa, M; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec Wilk, B; Gaspar, AMSM; Martins, E ; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
26
TITLE: RFT1-CDG: Absence of epilepsy and deafness in two patients with novel pathogenic variants
AUTHORS: Quelhas, D; Jaeken, J; Fortuna, A; Azevedo, L ; Bandeira, A; Matthijs, G; Martins, E ;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 43
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
27
TITLE: Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction  Full Text
AUTHORS: Celia Nogueira; Lisbeth Silva; Cristina Pereira; Luis Vieira; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Campos; Patricia Janeiro; Ana Gaspar; Juliette Dupont; Anabela Bandeira; Esmeralda Martins ; Marina Magalhaes; Silvia Sequeira; Jose Pedro Vieira; Helena Santos; Silvia Vilarinho; Laura Vilarinho;
PUBLISHED: 2019, SOURCE: MITOCHONDRION, VOLUME: 47
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
28
TITLE: The European Phenylketonuria Guidelines and the challenges on management practices in Portugal
AUTHORS: Sousa, C; Almeida, MF; Barbosa, CS; Martins, E ; Janeiro, P; de Almeida, IT; MacDonald, A; Rocha, JC ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
29
30
TITLE: Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa  Full Text
AUTHORS: Ermelinda Santos Silva; Maja Klaudel Dreszler; Agnieska Bakula; Teresa Oliva; Tereza Sousa; Paula Cristina Fernandes; Anna Tylki Szymanska; Elena Kamenets; Esmeralda Martins ; Piotr Socha;
PUBLISHED: 2018, SOURCE: CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, VOLUME: 42, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID | CIÊNCIAVITAE
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