TY  - JOUR
AU  - Couce, Maria Luz
AU  - Sanchez-Pintos, Paula
AU  - Aldamiz-Echevarria, Luis
AU  - Vitoria, Isidro
AU  - Navas, Victor
AU  - Martin-Hernandez, Elena
AU  - Garcia-Volpe, Camila
AU  - Pintos, Guillem
AU  - Peña-Quintana, Luis
AU  - Hernandez, Tomas
AU  - Gil, David
AU  - Sanchez-Valverde, Felix
AU  - Bueno, Maria
AU  - Roca, Iria
AU  - Lopez-Ruzafa, Encarna
AU  - Diaz-Fernandez, Carmen
PY  - 2019
DO  - 10.1097/MD.0000000000017303
UR  - http://hdl.handle.net/10668/14573
T2  - Medicine
AB  - 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...
LA  - en
PB  - Wolters Kluwer Health
KW  - Nephrocalcinosis
KW  - Phenotype
KW  - Severe liver dysfunction
KW  - Tubulopathy
KW  - Tyrosine
KW  - Adult
KW  - Child
KW  - Cognitive Dysfunction
KW  - Cyclohexanones
KW  - Delayed Diagnosis
KW  - Enzyme Inhibitors
KW  - Female
KW  - Follow-Up Studies
KW  - Humans
KW  - Infant, Newborn
KW  - Kidney Diseases
KW  - Male
KW  - Needs Assessment
KW  - Neonatal Screening
KW  - Nitrobenzoates
KW  - Obesity
KW  - Prognosis
KW  - Quality of Life
KW  - Retrospective Studies
KW  - Spain
KW  - Time-to-Treatment
KW  - Tyrosinemias
TI  - Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
TY  - research article
VL  - 98
ER  -