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TITLE: Follow-up of fatty acid -oxidation disorders in expanded newborn screening era  Full Text
AUTHORS: Patricia Janeiro; Rita Jotta; Ruben Ramos; Cristina Florindo; Fatima V Ventura; Laura Vilarinho; Isabel Tavares de Almeida; Ana Gaspar;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 178, ISSUE: 3
INDEXED IN: Scopus WOS
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TITLE: First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?  Full Text
AUTHORS: Mirjam M C Wamelink; Ruben J J F Ramos; Annette P M van den Elzen; George J G Ruijter; Ramon Bonte; Luisa Diogo; Paula Garcia; Nelson Neves; Benjamin Nota; Arvand Haschemi; Isabel Tavares de Almeida; Gajja S Salomons;
PUBLISHED: 2015, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency  Full Text
AUTHORS: Ventura, FV; Leandro, P; Luz, A; Rivera, IA; Silva, MFB; Ramos, R; Rocha, H; Lopes, A; Fonseca, H; Gaspar, A; Diogo, L; Martins, E ; Leao Teles, E; Vilarinho, L; de Almeida, IT;
PUBLISHED: 2014, SOURCE: CLINICAL GENETICS, VOLUME: 85, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef