Results 1 to 10 of about 1,641 (186)
An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]
Clinical Case ReportsTyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari +4 more
doaj +3 more sources
The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake [PDF]
Parasites & VectorsBackground Insecticide resistance in disease-transmitting arthropods of agricultural, veterinary, and public health significance poses a significant threat to vector control programs worldwide.
Zachary Thomas Stavrou-Dowd +6 more
doaj +5 more sources
The Discovery of the Mode of Action of Nitisinone
Metabolites, 2022 This review briefly discusses the discovery of the mode of action of the triketone herbicide, 2-(2-nitro-4-trifluormethylbenzoyl)-1,3-cyclohexanedione and its use as a drug Nitisinone for the treatment of inborn errors of tyrosine metabolism.
Edward A. Lock
doaj +3 more sources
Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]
PLoS Neglected Tropical DiseasesNitisinone, a systemic inhibitor of tyrosine catabolism, has recently emerged as a promising endectocide with demonstrated lethality against mosquitoes and tsetse flies.
Laure Augendre +5 more
doaj +2 more sources
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty [PDF]
Molecular Genetics and Metabolism ReportsBackground: Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.
L.R. Ranganath +9 more
doaj +2 more sources
Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]
Orphanet Journal of Rare DiseasesThe third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo +6 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2022 Background: Although changes in the tyrosine pathway during nitisinone therapy are known, a complete characterization of the induced tyrosinaemia is lacking to improve disease management.
L.R. Ranganath +13 more
doaj +1 more source
Metabolites, 2022 Changes in the phenylalanine (PHE)/tyrosine (TYR) pathway metabolites before and during homogentisic acid (HGA)-lowering by nitisinone in the Suitability of Nitisinone in Alkaptonuria (AKU) 2 (SONIA 2) study enabled the magnitude of the flux in the ...
Lakshminarayan R. Ranganath +10 more
doaj +1 more source
JIMD Reports, 2022 Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria 2 (SONIA 2), as
Lakshminarayan R. Ranganath +10 more
doaj +1 more source
JIMD Reports, 2022 In an open‐label, controlled study of nitisinone in alkaptonuria (SONIA 2), patients were advised to lower dietary protein intake to reduce serum tyrosine (s‐Tyr) levels and the risk of keratopathy.
Birgitta Olsson +5 more
doaj +1 more source