13 documents found, page 1 of 2
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Po...
Ventura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclu...
SCREENING FOR BH4-RESPONSIVENESS IN PORTUGUESE PKU PATIENTS
Rivera, I.; Leandro, P.; Gaspar, A.; Antunes, M. Lobo; Vilarinho, L.; de Almeida, I. Tavares
Lyophilisation of human phenylalanine hydroxylase
Lino, P. R.; Almeida, A. J.; de Almeida, I. T.; Leandro, P.
THE EFFECT OF LOW-MOLECULAR-WEIGHT COMPOUNDS ON THE IN VITRO POLYMERIZATION/FIB...
Leandro, J.; Simonsen, N.; de Almeida, I. Tavares; Leandro, P.; Flatmark, T.
Phenylketonuria as a protein misfolding disease
Leandro, J.; Simonsen, N.; de Almeida, Tavares,; Leandro, P.; Flatmark, T.
PAH deficiency in Portugal
Rivera, I; Leandro, P.; Queiros, A.; Gaspar, A.; Lobo, Antunes M.; Vilarinho, L.; Tavares, de Almeida,
Assembly of hybrid heteroallelic mutant forms of human phenylalanine hydroxylas...
Almeida, R.; Leandro, J.; Cristo, I; de Almeida, Tavares,; Leandro, P.
Studies on the interaction of mutant forms of human phenylalanine hydroxylase w...
Cristo, I; Almeida, R.; Leandro, J.; Tavares, de Almeida,; Leandro, P.
Interallelic complementation and phenylketonuria
Leandro, J.; Tavares, de Almeida,; Leandro, P.; Flatmark, T.
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency in Portugal
Luz, A.; Violante, S.; Gaspar, A.; Lobo, Antunes M.; Rivera, I. A.; Silva, M. F. B.; Ramos, A.; Rocha, H.; Sousa, C.; Marcao, A.; Fonseca, H.