Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

María L. Couce,Paula Sánchez-Pintos,Luis Aldámiz-Echevarría,Isidro Vitoria,Víctor Navas,Elena Martín-Hernández,Camila García Volpe,Guillem Pintos,Luis Peña Quintana,Tomás Hernández,David Gil,Felix Sánchez-Valverde,María A. Bueno,Iria Roca,Encarna Lopez-Ruzafa,Carmen Díaz-Fernández

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

2019

María L. Couce
Paula Sánchez-Pintos
Luis Aldámiz-Echevarría
Isidro Vitoria
Víctor Navas
Elena Martín-Hernández
Camila García Volpe
Guillem Pintos
Luis Peña Quintana
Tomás Hernández
David Gil
Felix Sánchez-Valverde
María A. Bueno
Iria Roca
Encarna Lopez-Ruzafa
Carmen Díaz-Fernández

AbstractTreatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term

Keywords:

Diabetes mellitus
Physical therapy
Nitisinone
Medicine
Pediatrics
Tyrosinemia
Disease
Hereditary tyrosinemia
time to treatment
in patient
Retrospective cohort study

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