Results 171 to 180 of about 1,641 (186)
Some of the next articles are maybe not open access.
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
Response of metastatic recurrent neuroblastoma to nitisinone: A modulator of tyrosine metabolism
Pediatric Blood & Cancer, 2005AbstractNitisinone blocks the tyrosine pathway and may be effective in treating neuroblastoma. A 33‐month‐old male with heavily treated metastatic, recurrent, N‐MYC amplified neuroblastoma received nitsinone (0.8 mg/kg/day escalated to 5.0 mg/kg/day). Dramatic tumor regression and resolution of pain without toxicity were observed.
Nathan L, Kobrinsky, Diane E, Sjolander
openaire +2 more sources
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.
openaire +1 more source
Liver transplantation for tyrosinemia in the nitisinone era
2020WOS ...
Yilmaz, C. +5 more
openaire +1 more source
Evaluation of succinylacetone and nitisinone measurement: analytical performance requirements
2022SSIEM22-2210Novel diagnostic/laboratory methods including omicsEvaluation of succinylacetone and nitisinone measurement: analytical performance requirementsList of authors:Ridvan Murat Öktem*⠀⠀1, Asli Inci⠀⠀1, Gürsel Biberoglu⠀⠀1, Ilyas Okur⠀⠀1, Fatih Süheyl Ezgü⠀⠀1, Leyla Tümer⠀⠀11 Gazi University, Ankara* = presenting authorBackground: While blood ...
İnci, Aslı +5 more
openaire +1 more source
Nitisinone: two decades treating hereditary tyrosinaemia type 1
The Lancet Diabetes & Endocrinology, 2021openaire +2 more sources
Nitisinone: new drug. Type 1 tyrosinemia: an effective drug.
Prescrire international, 2007(1) Type 1 hereditary tyrosinemia is a rare disease due to an enzyme deficiency. It is associated with life-threatening liver disorders, starting during the very first months of life. If left untreated (other than with a diet low in tyrosine and phenylalanine), most patients die during childhood. Liver transplantation is currently the only treatment to
openaire +1 more source