Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

Confirmed Publications: 93



31
TITLE: Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
AUTHORS: Catarina Sousa Barbosa; Manuela F Almeida; Cátia Sousa; Sara Rocha; Arlindo Guimas; Rosa Ribeiro; Esmeralda Martins ; Anabela Bandeira; Bruno M P M Oliveira ; Nuno Borges ; Anita MacDonald; Júlio C Rocha;
PUBLISHED: 2018, SOURCE: Journal of Inborn Errors of Metabolism and Screening, VOLUME: 6
INDEXED IN: CrossRef: 2
IN MY: ORCID
32
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; Alcalde Martin, C; 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: 2018, SOURCE: Journal of Inherited Metabolic Disease
INDEXED IN: Scopus CrossRef
IN MY: ORCID
33
TITLE: Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools  Full Text
AUTHORS: Ermelinda Santos Silva; Helena Moreira Silva; Lia Azevedo Lijnzaat; Claudia Melo ; Elisio Costa ; Esmeralda Martins ; Ana Isabel Lopes;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 176, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
34
TITLE: Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report
AUTHORS: Pinto, A; Almeida, MF; Cunha, A; Carmona, C; Rocha, S; Guimas, A; Ribeiro, R; Mota, CR; Martins, E ; MacDonald, A; Rocha, JC ;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 13
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
35
TITLE: Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source  Full Text
AUTHORS: Pinto, A; F. Almeida; C. Ramos; Rocha, S; Guimas, A; Ribeiro, R; Martins, E ; Bandeira, A; MacDonald, A; C. Rocha;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF CLINICAL NUTRITION, VOLUME: 71, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
36
TITLE: Symmetric asymptomatic reticular lesions of the skin  Full Text
AUTHORS: Barroso, F; Correia, J; Loureiro, M; Martins, E ;
PUBLISHED: 2017, SOURCE: Journal of Paediatrics and Child Health, VOLUME: 53, ISSUE: 10
INDEXED IN: Scopus CrossRef
IN MY: ORCID
37
TITLE: Infantile refsum disease: Influence of dietary treatment on plasma phytanic acid levels
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
38
TITLE: D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia  Full Text
AUTHORS: Joao Nascimento; Ceu Mota; Lucia Lacerda; Sara Pacheco; Rui Chorao; Esmeralda Martins ; Cristina Garrido;
PUBLISHED: 2015, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 52, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
39
TITLE: Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study  Full Text
AUTHORS: Patterson, MC; Mengel, E; Vanier, MT; Schwierin, B; Muller, A; Cornelisse, P; Pineda, M; Amado Fondo, A; Amraoui, Y; Andria, G; Arellano, M; Audoin, B; Azcona, C; Barr, C; Baruteau, J; Baumgartner, C; Bell, L; Bembi, B; Benneddif, K; Bernard, G; Bobocea, N; Bodzioch, M; Boettcher, T; Bonnan, M; Broue, P; Bruni, A; Caceres, M; Camino, R; Campbell, E; Cances, C; Cannell, P; Cesar, J; Chabrol, B; Chakrapani, A; Colao, R; Collet, A; Corsetti, T; Cousins, A; Covanis, A; Cox, T; Cuisset, JM; Dardis, A; Das, A; Deegan, P; Dengler, T; Deodato, F; Derralynn, H; Di Donato, I; Di Rocco, M; Dinopoulos, A; Pakiela, D; Eckehard, S; Engelen, M; Eyer, D; Fecarotta, S; Federico, A; Filla, A; Fiumara, A; Fonseca, MJ; Gabrielli, O; Garcia, T; Garrote, J; Gissen, P; Giugliani, L; Greenberg, C; Heron, B; Hertzberg, C; Higgins, F; Hill, A; Hiwot, T; Hlavata, A; Hörbe Blindt, A; Howley, E; Hussain, N; Illsinger, S; Imrie, J; Jacklin, E; Jones, S; Jovanovic, A; Kaczmarek, V; Kaphan, E; Kibaek, M; Kleinhans, P; Klünemann, KH; Koch, SM; Koegl Wallner, W; Kolnikova, M; Korenke, GC; Korinthenberg, R; Kumari, S; Lachmann, R; Lee Ann, L; Likopoulou, L; Lilienthal, E; Link, B; Lippold, M; Lopez Laso, E; Luecke, T; Lundgren, J; Mackrell, M; Madruga, M; Maletta, R; Malinova, V; Manners, J; Marinei, R; Marquardt, T; Martins, E ; Martins, AM; Martins, N; McAlister, L; McCabe, A; McKie, M; McMahon, S; Meehan, M; Meldgaard Lund, A; Mendozah, C; Meyer, A; Mielke, S; Milligan, A; Mir, P; Moisa, M; Mombelli, C; Morris, L; Müller Vom Hagen, J; Munoz, B; Murphy, E; Nagarajan, L; Neto, PB; Nevsimalova, S; Nia, S; Nicolai, J; Niemann, D; Niktari, G; O'Callaghan, MDM; Paucar Arce, M; Peers, K; Peintinger, L; Peralta, M; Pérez, J; Perez Poyato, M; Petrariu, A; Puschmann, A; Raiman, J; Rask, O; Rataj, J; Raymond Gaynor, C; Reichelt, G; Ribeiro, E; Riches, V; Roberts, A; Roelants, J; Rohrbach, M; Rokicki, D; Rolfs, A; Russo, C; Rutsch, F; Saleem, R; Santos, M; Schmutz, P; Schwahn, B; Sedel, F; Semotok, J; Sharma, R; Silska, S; Silva, A; Simmons, L; Sivera, R; Skorpen, J; Sole, G; Souza, C; Stadlober Degwerth, M; Starling, J; Temudo, T; Tomas, M; Tranchant, C; Uziel, G; Valayannopoulous, V; Van Den Hout, H; Van Der Tol, L; Van Spronsen, F; Vellodi, A; Verdu, A; Vilchez, JJ; Vinaixa, A; Visser, G; Voelker, J; Waldek, S; Walter, A; Walterfang, M; Wein, U; Widner, H; Wilcke, C; Wildish, L; Wraith, E; Wright, N; Xaidara, A; Yamamoto, M; Zallocco, F; Zielke, S; ...More
PUBLISHED: 2015, SOURCE: Orphanet Journal of Rare Diseases, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus CrossRef: 58
IN MY: ORCID
40
TITLE: A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal  Full Text
AUTHORS: Ana I Coelho; Ruben Ramos; Ana Gaspar; Claudia Costa; Anabela Oliveira; Luisa Diogo; Paula Garcia; Sandra Paiva; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Cardoso, MT; Elena Ferreira; Silvia Sequeira; Margarida Leite; Maria Joao Silva; Isabel Tavares de Almeida; Joao B Vicente ; Isabel Rivera;
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 4 of 10. Total results: 93.

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