Results 11 to 20 of about 968 (157)

Evaluating the impact of nitisinone at mosquito-lethal doses on Lutzomyia longipalpis. [PDF]

PLoS Neglected Tropical Diseases
Nitisinone, a systemic inhibitor of tyrosine catabolism, has recently emerged as a promising endectocide with demonstrated lethality against mosquitoes and tsetse flies.
Laure Augendre, Lucas Alexandre Farias de Souza, Magda Clara Vieira da Costa Ribeiro, Jérôme Depaquit, Jean-Philippe Martinet, Jorian Prudhomme   +5 more
doaj   +5 more sources

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports
Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +2 more sources

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report

Clinical Case Reports
A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment.
Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, FNU Mahparah, Kanchan kumari, Muhammad Husnain Ahmad   +5 more
doaj   +2 more sources

Nitisinone: a review

Orphan Drugs: Research and Reviews, 2017
A Cigdem Aktuglu-Zeybek, Tanyel Zubarioglu Department of Pediatrics, Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, Istanbul, Turkey Abstract: Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]cyclohexane-1,3-dione), an effective triketone herbicide, is a potent inhibitor of
Tanyel Zubarioglu, Cigdem Aktuglu Zeybek   +1 more
exaly   +5 more sources

The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake [PDF]

Parasites & Vectors
Background 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, George Parsons, Clair Rose, Faye Brown, Rosemary Susan Lees, Álvaro Acosta-Serrano, Lee Rafuse Haines   +6 more
doaj   +2 more sources

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Kendall A. Flaharty, Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard, Ping Hu, Rebekah L. Waikel, Francis Rossignol, Wendy J. Introne, Benjamin D. Solomon   +10 more
wiley   +2 more sources

Efficacy of low dose nitisinone in the management of alkaptonuria

Molecular Genetics and Metabolism, 2019
To study the efficacy of low dosage of nitisinone in alkaptonuria.Alkaptonuria (AKU) is a rare genetic disease which induces deposition of homogentisic acid (HGA) in connective inducing premature arthritis, lithiasis, cardiac valve disease, fractures, muscle and tendon ruptures and osteopenia.
Jean-Louis Guéant, François Feillet, Alain Blum   +2 more
exaly   +3 more sources

Quantitative Succinylacetone Measurement by Gas Chromatography‐Tandem Mass Spectrometry (GC–MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias [PDF]

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Denis Cyr, Bruno Maranda, Paula J. Waters   +2 more
wiley   +2 more sources

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study [PDF]

Cureus
Background and aim Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and slow disease progression in AKU, but the effects of this treatment on ...
Bruce, Callum, Meenamkuzhy-Hariharan, Priyanka, Hussain, Shahdat, Eleuteri, Antonio, Ranganath, Lakshminarayan, Fisher, Michael, Imrich, Richard, Arnoux, Jean-Baptiste, Olsson, Birgitta, Rudebeck, Mattias   +9 more
openaire   +4 more sources

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet. While NTBC modulates the
Anibh M. Das, Diana Ballhausen, Dorothea Haas, Johannes Häberle, Tobias Hagedorn, Cecilia Janson‐Mutsaerts, Nils Janzen, Johannes Sander, Peter Freisinger, Daniela Karall, Uta Meyer, Eberhard Mönch, Susanne Morlot, Stefanie Rosenbaum‐Fabian, Sabine Scholl‐Bürgi, Stephan vom Dahl, Natalie Weinhold, Jiri Zeman, Karin Lange   +18 more
wiley   +2 more sources