Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone (SA), amino acids, and various biomarkers of liver and kidney function. Good adherence to treatment and optimal adjustment of the NTBC dose, according to clinical manifestations and laboratory parameters, can prevent severe liver complications such as hepatocarcinogenesis (HCC). We analyzed several laboratory parameters for 15 HT-1 patients over one year of follow-up in a cohort that included long-term NTBC-treated patients (more than 20 years), as well as short-term patients (one year). Based o...
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in ...
Tyrosinemia type 1 is an inherited metabolic disorder of tyrosine metabolism. Due to an enzymatic de...
Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoac...
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 ...
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without t...
Introduction In hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the abs...
The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a trea...
Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and progno...
The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a trea...
The 1991 introduction of 2-(2-nitro-4-trifluoromethylbenzyol)-1, 3 cyclohexanedione (NTBC) as a trea...
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in ...
Tyrosinemia type 1 is an inherited metabolic disorder of tyrosine metabolism. Due to an enzymatic de...
Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoac...
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 ...
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without t...
Introduction In hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the abs...
The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a trea...
Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and progno...
The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a trea...
The 1991 introduction of 2-(2-nitro-4-trifluoromethylbenzyol)-1, 3 cyclohexanedione (NTBC) as a trea...
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in ...
Tyrosinemia type 1 is an inherited metabolic disorder of tyrosine metabolism. Due to an enzymatic de...
Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoac...