Results 41 to 50 of about 1,331 (171)
Type 1 tyrosinemia in Finland: a nationwide study
Orphanet Journal of Rare Diseases, 2020 Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä +8 more
doaj +1 more source
Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review [PDF]
Journal of Clinical and Diagnostic Research, 2018 We report a case of nitisinone-induced keratopathy in a 52-year-old male patient with Alkaptonuria (AKU) disease in Jordan. The patient presented with slight drop of left eye vision for the last four weeks, associated with a foreign body sensation in his
Khalid Mousa Al Zubi +3 more
doaj +1 more source
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 +4 more sources
, 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
JIMD Reports, 2020 Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
Lakshminarayan R. Ranganath +8 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou +5 more
doaj +1 more source
, 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
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