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Serum Amino Acid Profiling in Patients With Alkaptonuria Before and After Treatment With Nitisinone [PDF]
JIMD Reports, 2018 Background: Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU.
Andrew Davison +2 more
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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
openaire +1 more source
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 +1 more source
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.
openaire +1 more source
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
Liver transplantation for tyrosinemia in the nitisinone era
2019[No abstract available]
Karaca, C. +5 more
openaire +1 more source
Experience of Nitisinone for the Pharmacological Treatment of Hereditary Tyrosinaemia Type 1
Expert Opinion on Pharmacotherapy, 2008Ulrich Baumann, Saikat Santra
exaly