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

Treatment 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 evoluti...

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Библиографические подробности
Опубликовано в: :Medicine (Baltimore)
Главные авторы: Couce, María Luz, Sánchez-Pintos, Paula, Aldámiz-Echevarría, Luís, Vitoria, Isidro, Navas, Victor, Martín-Hernández, Elena, García-Volpe, Camila, Pintos, Guillem, Peña-Quintana, Luis, Hernández, Tomás, Gil, David, Sánchez-Valverde, Félix, Bueno, María, Roca, Iria, López-Ruzafa, Encarna, Díaz-Fernández, Carmen
Формат: Artigo
Язык:Inglês
Опубликовано: Wolters Kluwer Health 2019
Предметы:
5100
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6775438/
https://ncbi.nlm.nih.gov/pubmed/31574857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000017303
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