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Erreurs innées du métabolisme: transition enfant-adulte

Bonafé, L
Published in Revue médicale suisse. 2015, vol. 11, no. 462, p. 445-449
Abstract Inborn errors of metabolism (IEM) are due to mutations of genes coding for enzymes of intermediary metabolism and are classified into 3 broad categories: 1) intoxication, 2) energy defect and 3) cellular organelles synthesis or catabolism defect. Improvements of therapy over these last 20 years has improved prognosis of children with IEM. These children grow up and should have their transition to specialized adult care. Adult patients with IEM are a relatively new phenomenon with currently only limited knowledge. Extrapolated pediatric guidelines are applied to the adult population taking into account adult life stages (social independence, pregnancy, aging process and potential long-term complications).
Keywords AdolescentHumansMetabolism, Inborn Errors/therapyTransition to Adult CareYoung Adult
PMID: 25915985
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Research group Diabète et régulation des gènes (36)
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TRAN, Christel et al. Erreurs innées du métabolisme: transition enfant-adulte. In: Revue médicale suisse, 2015, vol. 11, n° 462, p. 445-449. https://archive-ouverte.unige.ch/unige:76138

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Deposited on : 2015-10-14

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