Results 71 to 80 of about 766 (123)

Classical xanthinuria: a case report [PDF]

, 2003
Pürin metabolizmasının kalıtsal bir bozukluğu olan ksantinüri, ürolitiyazisin nadir görülen bir nedenidir. Üç aylıktan itibaren kum dökme ve kanlı idrar yapma yakınmaları olan, ilk kez 9 aylıkken anuri ve böbrek yetmezliği bulguları ile başvurduğu bir ...
Ural, Rana, Bak, Mustafa, Ağın, Hasan, Serdaroğlu, Erkin   +3 more
core  

2023 ACVIM Forum Research Abstract Program

Journal of Veterinary Internal Medicine, Volume 38, Issue 1, Page 530-729, January/February 2024.
wiley   +1 more source

Genetic Variant underlying Xanthinuria in a population of Munchkin cats

Hereditary xanthinuria is a genetic disorder of purine metabolism causing xanthinaemia and xanthine crystalluria. Type I xanthinuria is due to mutations in xanthine dehydrogenase (XDH).
Pritchard, Emily Cathryn
core  

Rare Cause of Pediatric Urolithiasis: Xanthinuria

Haseki Tıp Bülteni, 2015
Ebru Yılmaz, Kadriye Özdemir, Cemaliye Başaran   +2 more
doaj   +1 more source

Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function. [PDF]

Intern Med, 2022
Miyazaki S, Hamada T, Sugihara S, Mizuta E, Endo Y, Ohtahara A, Komatsu K, Kuwabara M, Fukuuchi T, Kaneko K, Ichida K, Ogino K, Ninomiya H, Yamamoto K, Nakamura T, Hisatome I.   +15 more
europepmc   +1 more source

Paciente femenino de 3 años de edad con nefrolitiasis e infección de vías urinarias recurrentes caso clínico de educación médica

, 2015
Hereditary xanthinuria is a disease whose incidence is unknown because it is rarely reported; most cases occur in Mediterranean countries and the Middle East and is characterized by excretion of large amounts of xanthine in urine and tendency to xanthine
Narváez Revelo, Eduardo Alemao
core  

Metabolic Impact of XOR Inhibitors Use and Discontinuation

Xanthine oxidoreductase (XOR) is the only enzyme responsible for uric acid production and is essential for preventing gout. While XOR inhibitors effectively reduce serum urate levels, they also influence purine salvage and de novo pathways, as well as ...
Mai Sekine, Kimiyoshi Ichida
core   +1 more source

A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats. [PDF]

Exp Anim
Urasaki M, Nagasaka K, Kido M, Hayashi K, Watanabe A, Hattori K, Sekiguchi T, Kuwamura M, Tanaka M, Mashimo T, Kuramoto T.   +10 more
europepmc   +1 more source

Dysuricemia. [PDF]

Biomedicines, 2023
Nakayama A, Kurajoh M, Toyoda Y, Takada T, Ichida K, Matsuo H.   +5 more
europepmc   +1 more source

Genetic Insights into Persistent Hypouricemia in Adults: Novel Findings from an Adult Nephrogenetic Clinic. [PDF]

Kidney Dis (Basel)
Dirim AB, Suer I, Kalaycı T, Tahillioglu Y, Safak S, Ucar AR, Mirioglu S, Artan AS, Oto OA, Altınkaynak M, Ozturk S, Senturk L, Turkmen A, Yildiz A, Cefle K, Yazici H, Ozturk S.   +16 more
europepmc   +1 more source