2 documents found, page 1 of 1
Hereditary fructose intolerance.
Lopes, A I; Almeida, A G; Costa, A E; Costa, A; Leite, MHereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase...
A methodology for the diagnosis and follow-up of the evolution of acute hepatit...
Dias, J A; Medina, M; Antonio, A M; Brandão, N; Cabral, J; Carvalho, H; Gomes, J L; Gonçalves, I; Lopes, A I; Pó, IThe Working Group of the Section of Paediatric Gastroenterology and Nutrition of the Portuguese Society of Paediatrics established a protocol for the investigation of children with acute hepatitis. The main purpose of this proposal is to allow appropriate etiologic investigations and avoid unnecessary tests that are expensive and do not add relevant information for the correct follow-up of these patients.; The ...