Article
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2011
Couce Maria Luz, Dalmau Jaime, del Toro Mireia, Pintos-Morell Guillem, Aldámiz-Echevarría Luís
Abstract excerpt
BACKGROUND: Tyrosinemia type 1 (HT1) is a rare but treatable disease. The aim of the present study was to review the efficacy of long-term treatment of HT1 with nitisinone, expand knowledge about the clinical spectrum of the disease and assess a possible genotype-phenotype correlation. METHODS: A retrospective multicenter study was carried out based on questionnaires on genotype, phenotype, therapy and outcome in...
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