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Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of ...
Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.Methionine adenosyltransferase deficienc(MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families. During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hyp...
Benefícios do Rastreio Neonatal nas Doenças da B-oxidação Mitocondrial dos Ácid...
Martins, E.; Bandeira, A.; Rocha, H.; Marcão, A.; Vilarinho, L.RESUMO Objectivos: Avaliar o contributo do diagnóstico precoce na redução da pesada morbilidade e mortalidade que se associa aos defeitos da B-oxidação mitocondrial dos ácidos gordos. Método: Avaliação clínica e bioquímica retrospectiva dos doentes com defeitos da B-oxidação mitocondrial dos ácidos gordos (défice em desidrogenases dos ácidos gordos de cadeia média - MCAD, défice em desidrogenases dos ácidos go...
Gaucher disease: expression and characterization of mild and severe acid beta-g...
Amaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T). The type 1 probands were either het...
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