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Branched chain amino acid diseases.
Cabral, A; Unidade de Doenças Metabólicas, Hospital de Santa Maria, Lisboa.; 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 presen...
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