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Repositório Científico do Centro Hospitalar do Porto
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DIA - Departamento da Infância e da Adolescência
SCardP - Serviço de Cardiologia Pediátrica
SCIP - Serviço de Cuidados Intensivos Pediátricos
SCir.P - Serviço de Cirurgia Pediátrica
SGP - Serviço de Gastrenterologia Pediátrica
SNefroP - Serviço de Nefrologia Pediátrica
SNeuroP - Serviço de Neurologia Pediátrica
SPM - Serviço de Pediatria Médica
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Results 1-7 of 7 (Search time: 0.013 seconds).
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Issue Date
Title
Author(s)
Type
Access Type
2013
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Couce, M.
;
Sánchez-Pintos, P.
;
Diogo, L.
;
Leão-Teles, E.
;
Martins, E.
;
Santos, H.
;
Amor Bueno, M.
;
Delgado-Pecellín, C.
;
Castiñeiras, D.
;
Cocho, J.
;
García-Villoria, J.
;
Ribes, A.
;
Fraga, J.
;
Rocha, H
article
2013
MAN1B1 Deficiency: An Unexpected CDG-II
Rymen, D.
;
Peanne, R.
;
Millón, M.
;
Race, V.
;
Sturiale, L.
;
Garozzo, D.
;
Mills, P.
;
Clayton, P.
;
Asteggiano, C.
;
Quelhas, D.
;
Cansu, A.
;
Martins, E.
;
Nassogne, M.
;
Gonc¸alves-Rocha, M.
;
Topaloglu, H.
;
Jaeken, J.
;
Foulquier, F.
;
Matthijs, G.
article
2015
D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotonia
Nascimento, J.
;
Mota, C.
;
Lacerda, L.
;
Pacheco, S.
;
Chorão, R.
;
Martins, E.
;
Garrido, C.
article
2005
Vómitos Cíclicos / Acidúria Glutárica tipo II - Caso Clínico
Sarmento, A.
;
Cardoso, M.
;
Teixeira, F.
;
Barbot, C.
;
Martins, E.
article
2005
Defeitos da β-Oxidação Mitocondrial dos Ácidos Gordos - Artigo de Revisão
Sarmento, A.
;
Cardoso, M.
;
Barbo, C.
;
Martins, E.
article
Apr-2013
Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
Santos-Silva, E.
;
Cardoso, M.
;
Vilarinho, L.
;
Medina, M.
;
Barbot, C.
;
Martins, E.
article
2016
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
Sá, M.
;
Rocha, J.
;
Almeida, M.
;
Carmona, C.
;
Martins, E.
;
Miranda, V.
;
Coutinho, M.
;
Ferreira, R.
;
Pacheco, S.
;
Laranjeira, F.
;
Ribeiro, I.
;
Fortuna, A.
;
Lacerda, L.
article
Discover
Author
3
Cardoso, M.
2
Barbot, C.
2
Lacerda, L.
2
Pacheco, S.
2
Sarmento, A.
1
Almeida, M.
1
Amor Bueno, M.
1
Asteggiano, C.
1
Barbo, C.
1
Cansu, A.
.
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Subject
1
acidose metabólica
1
acidúria glutárica tipo II
1
cyclic vomiting
1
D-bifunctional protein deficiency
1
D2-hydroxyglutaric acid
1
Defeitos inatos da β-oxidação dos...
1
diagnosis
1
diagnóstico
1
fatty acid metabolism
1
glutaric aciduria type II
.
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Date issued
5
2010 - 2016
2
2005 - 2009