4 documents found, page 1 of 1
Alcaptonúria: relato de caso
Coutinho, I; Rivera-Monge, D; Portela, R; Vieira, L; Freitas, DIntrodução: A alcaptonúria é uma doença rara do metabolismo da fenilalanina e tirosina. As manifestações oculares desta doença são comuns, afectam várias estruturas oculares e podem auxiliar no diagnóstico da doença. Métodos: Descrição clínica de um doente com alcaptonúria Resultados: Homem 70 anos, que recorreu ao serviço de urgência por queixa de baixa acuidade visual progressiva. Apresentava lesões hiperpigm...
Branched chain amino acid diseases.
Cabral, A; Portela, R; Tasso, T; Eusébio, F; De Almeida, I T; Silveira, CThe authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and in 4 the onset occurred later. Fifteen patients (78.9%) needed one or several extra-corporal procedures either in ...
Phenylketonuria--physical and mental development of phenylketonuric children su...
Cabral, A; Portela, R; Tasso, T; Eusébio, F; Guilherme, A; Lorga, L; De Almeida, I T; Silveira, C; Levy, M LThe Authors present the first clinical and laboratory assessment of 6 children with PKU, diagnosed and treated early, as a result of the application of the Early Diagnosis Programme in the southern part of the country, from April 1984 to November 1986. The main protein source used in the feeding of these patients was a phenylalanine-free mixture of amino-acids, with an excellent tolerance.; The Authors present ...
Ceroid-lipofuscinosis: ultrastructural study of 8 cases.
Matias, C; Cabral, A; Tasso, T; Portela, R; Jorge, A; Nunes, J F; Soares, JThe authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observati...