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Esmeralda Emilia Gomes Martins
AuthID:
R-00J-QTW
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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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Confirmed Publications: 93
71
TITLE:
NOVEL MUTATIONS IN 21 PATIENTS WITH L-2-HYDROXYGLUTARIC ACIDURIA OF PORTUGUESE ORIGIN
Full Text
AUTHORS:
Vilarinho, L
; Cardoso, ML;
Gaspar, P
;
Barbot, C
;
Azevedo, L
; Diogo, L;
Santos, M
; Carrilho, I; Fineza, I; Kok, F; Chorao, R; Alegria, P;
Martins, E
;
Teixeira, J
;
Cabral C Fernandes
;
Verhoeven, NM
; Salomons, GS; Santorelli, FM; Cabral, P;
Amorim, Antonio
;
Jakobs, C;
...More
PUBLISHED:
2005
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE,
VOLUME:
28,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
26
IN MY:
ORCID
72
TITLE:
Emergencies in metabolic diseases - Round table: Late Presentation [Urgências em doenças metabólicas - Formas de apresentação tardia]
AUTHORS:
Martins, E
;
PUBLISHED:
2004
,
SOURCE:
Nascer e Crescer,
VOLUME:
13,
ISSUE:
3
INDEXED IN:
Scopus
IN MY:
ORCID
73
TITLE:
Galactosemia: The genotype and phenotype of seven patients
AUTHORS:
Martins, E
; Teixeira, J; Cardoso, ML; Lima, MR; Briones Godino, P;
Barbot, C
;
PUBLISHED:
2004
,
SOURCE:
REVISTA DE NEUROLOGIA,
VOLUME:
38,
ISSUE:
12
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
74
TITLE:
Maple syrup disease presenting as paroxysmal dystonia
Full Text
AUTHORS:
Temudo, T
;
Martins, E
; Pocas, F; Cruz, R;
Vilarinho, L
;
PUBLISHED:
2004
,
SOURCE:
ANNALS OF NEUROLOGY,
VOLUME:
56,
ISSUE:
5
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
75
TITLE:
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
Full Text
AUTHORS:
Cardoso, ML; Rodrigues, MR; Leao, E;
Martins, E
; Diogo, L; Rodrigues, E; Garcia, P; Rolland, MO;
Vilarinho, L
;
PUBLISHED:
2004
,
SOURCE:
MOLECULAR GENETICS AND METABOLISM,
VOLUME:
82,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
76
TITLE:
Central diabetes insipidus: A case report
AUTHORS:
Madalena, C; Sameiro Faria, M; Coelho, B;
Martins, E
; Mota, C; Pereira, E;
PUBLISHED:
2002
,
SOURCE:
REVISTA DE NEUROLOGIA,
VOLUME:
35,
ISSUE:
5
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
77
TITLE:
Maroteaux-Lamy syndrome - An unusual presentation [Síndrome de Maroteaux-Lamy uma apresentação invulgar]
AUTHORS:
Goncalves, S; Oliveira, T; Iglesias, I;
Martins, E
; Santos, M; Marques, L;
PUBLISHED:
2002
,
SOURCE:
Nascer e Crescer,
VOLUME:
11,
ISSUE:
1
INDEXED IN:
Scopus
IN MY:
ORCID
78
TITLE:
Metabolic diseases [Doenças metabólicas de atingimento hepático]
AUTHORS:
Martins, E
;
PUBLISHED:
2002
,
SOURCE:
Nascer e Crescer,
VOLUME:
11,
ISSUE:
3
INDEXED IN:
Scopus
IN MY:
ORCID
79
TITLE:
Prolidase deficiency with hyperimmunoglobulin E: A case report
Full Text
AUTHORS:
Lopes, I; Marques, L; Neves, E;
Silva, A
; Taveira, M; Pena, R; Vilarinho, L;
Martins, E
;
PUBLISHED:
2002
,
SOURCE:
PEDIATRIC ALLERGY AND IMMUNOLOGY,
VOLUME:
13,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
80
TITLE:
Cardiovascular manifestations in Marfan syndrome.
AUTHORS:
Figueiredo, S;
Martins, E
; Lima, MR; Alvares, S;
PUBLISHED:
2001
,
SOURCE:
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology,
VOLUME:
20,
ISSUE:
12
INDEXED IN:
Scopus
IN MY:
ORCID
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