Results 51 to 60 of about 1,396 (170)
, 2022 Abstract Introduction: In tyrosinemia type I (HT1) accumulation of succinylacetone causes severe hepatic and renal dysfunction and hepatocellular carcinoma, and the only drug used in the treatment is nitisinone (NTBC). While succinylacetone measurement from dried blood spots (DBS) is used in the diagnosis of patients, simultaneous measurements ...
Tümer, Leyla +5 more
openaire +2 more sources
Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria [PDF]
, 2016 Alkaptonuria (AKU) is a rare genetic disease resulting in severe, rapidly progressing, early onset multi-joint osteoarthropathy. A potential therapy, nitisinone, is being trialled that reduces the causative agent; homogentisic acid (HGA) and in a murine ...
Taylor, Adam +3 more
core +3 more sources
, 2019 Nitisinone decreases homogentisic acid (HGA) in Alkaptonuria (AKU) by inhibiting the tyrosine metabolic pathway in humans. The effect of different daily doses of nitisinone on circulating and 24 h urinary excretion of phenylalanine (PA), tyrosine (TYR ...
Psarelli, EE +9 more
core +1 more source
Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).
, 2021 Background: Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM ...
Peter, Michael +8 more
core +1 more source
, 2022 Background: Nitisinone is the potent inhibitor of 4-hydroxyphenylpyruvic acid dioxygenase and is the only effective therapy of tyrosinemia type I with tyrosine restricted diet.
Ezgü, Fatih Süheyl +5 more
core +1 more source
Tyrosinemia type I: an unusual case presentation
Journal of Biochemical and Clinical Genetics, 2022 Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj +1 more source
JIMD Reports, 2022 Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine (TYR) metabolism which results in a deficiency of the enzyme homogentisate 1,2‐dioxygenase activity.
Andrew T. Hughes +4 more
doaj +1 more source
First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco +3 more
doaj +1 more source
Veterinary and Comparative Oncology, Volume 24, Issue 3, Page 554-567, September 2026.ABSTRACT Effective chemotherapy for canine histiocytic sarcoma (CHS) has yet to be established. In our previous study, CHS cell lines were subclassified into two groups based on their gene expression profiles: Group A and Group B. This study aimed to identify novel therapeutic agents that are effective against each CHS subgroup, and we performed high ...
Hiroki Sakuma +6 more
wiley +1 more source
Predicting tyrosinaemia: a mathematical model of 4-hydroxyphenylpyruvate dioxygenase inhibition by nitisinone in rats [PDF]
, 2016 Nitisinone or 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione, is a reversible inhibitor of 4- hydroxyphenylpyruvate dioxygenase (HPPD), an enzyme important in tyrosine catabolism.
Mistry, P +4 more
core +5 more sources