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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...
Data: 1998
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Origem: Acta Médica Portuguesa