Esmeralda Emilia Gomes Martins


AuthID: R-00J-QTW

Confirmed Publications: 93



11
TITLE: Corrigendum to “The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII” [Mol Genet Metab 2020 Mar;129(3):219–227] (Molecular Genetics and Metabolism (2020) 129(3) (219–227), (S1096719219307851), (10.1016/j.ymgme.2020.01.003))
AUTHORS: Wang, RY; da Silva Franco, JF; López Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Metabolism
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
12
13
TITLE: Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients  Full Text
AUTHORS: Pavlu Pereira, H; Silva, MJ; Florindo, C; Sequeira, S; Ferreira, AC; Duarte, S; Rodrigues, AL; Janeiro, P; Oliveira, A; Gomes, D; Bandeira, A; Martins, E ; Gomes, R; Soares, S; de Almeida, IT; Vicente, JB; Rivera, I;
PUBLISHED: 2020, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
14
TITLE: The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII  Full Text
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 129, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII (vol 129, pg 219, 2020)  Full Text
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 131, ISSUE: 1-2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: Tyrosinemia type III: a case report of siblings and literature review  Full Text
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence
AUTHORS: Coelho, MP; Martins, E ; Vilarinho, L;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1 Handle
IN MY: ORCID
18
TITLE: Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children
AUTHORS: Dias, CL; Maio, I; Brandao, JR; Tomas, E; Martins, E ; Silva, ES;
PUBLISHED: 2019, SOURCE: GE PORTUGUESE JOURNAL OF GASTROENTEROLOGY, VOLUME: 26, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
19
TITLE: Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria
AUTHORS: Coelho, MP; Correia, J; Dias, A; Nogueira, C; Bandeira, A; Martins, E ; Vilarinho, L;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 49, ISSUE: 1
INDEXED IN: Scopus CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
20
TITLE: Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients  Full Text
AUTHORS: Catia S Pereira; Begona Perez Cabezas; Helena Ribeiro; Luz Maia, ML; Teresa Cardoso, MT; Ana F Dias; Olga Azevedo; Fatima Ferreira, MF; Paula Garcia; Esmeralda Rodrigues; Paulo Castro Chaves ; Esmeralda Martins ; Patricio Aguiar; Merce Pineda; Yasmina Amraoui; Simona Fecarotta; Elisa Leao Teles; Shenglou L Deng; Paul B Savage; Fatima Macedo, MF;
PUBLISHED: 2019, SOURCE: FRONTIERS IN IMMUNOLOGY, VOLUME: 10, ISSUE: JUN
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | CIÊNCIAVITAE
Page 2 of 10. Total results: 93.

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service