Results 171 to 180 of about 1,688 (193)
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Nederlands tijdschrift voor geneeskunde, 2007
Nitisinone is an inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase (4HPPD). Its rare area of use is hereditary tyrosinaemia, a life-threatening disease in which the last step in the catabolism of tyrosine cannot be taken due to the absence of an enzyme.
A F, Cohen, H, van Bronswijk
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Nitisinone is an inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase (4HPPD). Its rare area of use is hereditary tyrosinaemia, a life-threatening disease in which the last step in the catabolism of tyrosine cannot be taken due to the absence of an enzyme.
A F, Cohen, H, van Bronswijk
openaire +2 more sources
Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1
Drugs, 2006Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with liver failure but can be manifest as chronic liver disease. Rarely, it may present with nonhepatic manifestations such as renal dysfunction, porphyria-like illness or cardiomyopathy.
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Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone
Annals of the Rheumatic Diseases, 2014Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). Over time HGA is progressively deposited as a polymer (termed ochronotic pigment) in collagenous tissues, especially the cartilages of weight bearing
Preston, Andrew J. +9 more
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2015
The clinical use of nitisinone, also known as NTBC, has a fascinating history in the context of modern medical practice. This is a remarkable account of how a weed killer has become the mainstay in the treatment of hereditary tyrosinaemia type 1, a lethal inherited metabolic disorder.
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The clinical use of nitisinone, also known as NTBC, has a fascinating history in the context of modern medical practice. This is a remarkable account of how a weed killer has become the mainstay in the treatment of hereditary tyrosinaemia type 1, a lethal inherited metabolic disorder.
openaire +1 more source
Nitisinone for the treatment of hereditary tyrosinemia type I
Expert Opinion on Orphan Drugs, 2013Introduction: Nitisinone has transformed the management of hereditary tyrosinemia type 1 (HT1) and if combined with neonatal screening could abolish most of the clinical manifestations of the disease. Hereditary tyrosinemia type 1 is a rare genetic disease due to fumarylacetoacetase (FAH) deficiency, which usually presents with liver failure.
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Molecular Genetics and Metabolism
We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU).Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid (HGA), quality of life, joint range of motion, and adverse events in AKU patients were retrieved from Pubmed and ...
Flávia Diniz, Mayrink +3 more
exaly +3 more sources
We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU).Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid (HGA), quality of life, joint range of motion, and adverse events in AKU patients were retrieved from Pubmed and ...
Flávia Diniz, Mayrink +3 more
exaly +3 more sources
Liver transplantation for tyrosinemia in the nitisinone era
2019[No abstract available]
Karaca, C. +5 more
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