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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
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
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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
12
TITLE:
Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center
AUTHORS:
Ermelinda Santos Silva; Alexandra Almeida;
Simao Frutuoso
;
Esmeralda Martins
;
Maria Joao Valente
;
Alice Santos-Silva
;
Ana Isabel Lopes
;
PUBLISHED:
2020
,
SOURCE:
FRONTIERS IN PEDIATRICS,
VOLUME:
8
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
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
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
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
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
17
TITLE:
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence
Full Text
AUTHORS:
Margarida Paiva Coelho
;
Esmeralda Martins
;
Laura Vilarinho
;
PUBLISHED:
2019
,
SOURCE:
EUROPEAN JOURNAL OF PEDIATRICS,
VOLUME:
178,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
1
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
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
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
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