Works matching Xanthinuria

Results: 78

Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans.

Published in:

International Journal of Molecular Sciences, 2012, v. 13, n. 11, p. 15475, doi. 10.3390/ijms131115475

By:

Ichida, Kimiyoshi;
Amaya, Yoshihiro;
Okamoto, Ken;
Nishino, Takeshi

Publication type:

Article

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2018, v. 37, n. 6, p. 324, doi. 10.1080/15257770.2018.1460478

By:

Sebesta, I.;
Stiburkova, B.;
Krijt, J.

Publication type:

Article

XDH gene mutation is the underlying cause of classical xanthinuria: A second report.

Published in:

Kidney International, 2000, v. 57, n. 6, p. 2215, doi. 10.1046/j.1523-1755.2000.00082.x

By:

Levartovsky, David;
Lagziel, Ayala;
Sperling, Oded;
Liberman, Uri;
Yaron, Michael;
Hosoya, Tatsuo;
Ichida, Kimiyoshi;
Peretz, Hava

Publication type:

Article

Modern diagnostic approach to hereditary xanthinuria.

Published in:

Urolithiasis, 2015, v. 43, n. 1, p. 61, doi. 10.1007/s00240-014-0734-4

By:

Mraz, Martin;
Hurba, Olha;
Bartl, Josef;
Dolezel, Zdenek;
Marinaki, Anthony;
Fairbanks, Lynette;
Stiburkova, Blanka

Publication type:

Article

Classical xanthinuria: a rare cause of pediatric urolithiasis.

Published in:

Turkish Journal of Urology, 2013, v. 39, n. 4, p. 274, doi. 10.5152/tud.2013.066

By:

Akıncı, Nurver;
Çakıl, Adviye;
Öner, Ayşe

Publication type:

Article

Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 6, p. 2412, doi. 10.1159/000374042

By:

Zhou, Yunan;
Zhang, Xueguang;
Ding, Rui;
Li, Zuoxiang;
Hong, Quan;
Wang, Yan;
Zheng, Wei;
Geng, Xiaodong;
Fan, Meng;
Cai, Guangyan;
Chen, Xiangmei;
Wu, Di

Publication type:

Article

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria.

Published in:

Metabolomics, 2012, v. 8, n. 5, p. 951, doi. 10.1007/s11306-011-0391-3

By:

Peretz, Hava;
Watson, David;
Blackburn, Gavin;
Zhang, Tong;
Lagziel, Ayala;
Shtauber-Naamati, Meirav;
Morad, Tova;
Keren-Tardai, Elena;
Greenshpun, Victoria;
Usher, Sali;
Shalev, Hanna;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

Hereditary xanthinuria in a goat.

Published in:

Journal of Veterinary Internal Medicine, 2019, v. 33, n. 2, p. 1009, doi. 10.1111/jvim.15431

By:

Vail, Krystal J.;
Tate, Nicole M.;
Likavec, Tasha;
Minor, Katie M.;
Gibbons, Philippa M.;
Rech, Raquel R.;
Furrow, Eva

Publication type:

Article

Xanthinuria type I: a rare cause of urolithiasis.

Published in:

Pediatric Nephrology, 2007, v. 22, n. 2, p. 310, doi. 10.1007/s00467-006-0267-3

By:

Arikyants, Nina;
Sarkissian, Ashot;
Hesse, Albrecht;
Eggermann, Thomas;
Leumann, Ernst;
Steinmann, Beat

Publication type:

Article

Xanthinuria in a domestic shorthair cat.

Published in:

2009

By:

Schweighauser, A.;
Howard, J.;
Malik, Y.;
Francey, T.

Publication type:

Case Study

Çocuklarda Ürolitiyazisin Nadir Nedeni: Ksantinüri.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2015, v. 53, n. 2, p. 171, doi. 10.4274/haseki.2304

By:

Yılmaz, Ebru;
Özdemir, Kadriye;
Başaran, Cemaliye;
Gözmen, Şükran;
Erturgut, Pınar;
Serdaroğlu, Erkin

Publication type:

Article

Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.

Published in:

Biomedicines, 2021, v. 9, n. 11, p. 1723, doi. 10.3390/biomedicines9111723

By:

Sekine, Mai;
Okamoto, Ken;
Ichida, Kimiyoshi

Publication type:

Article

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.

Published in:

Biomedicines, 2021, v. 9, n. 7, p. 788, doi. 10.3390/biomedicines9070788

By:

Peretz, Hava;
Lagziel, Ayala;
Bittner, Florian;
Kabha, Mustafa;
Shtauber-Naamati, Meirav;
Zhuravel, Vicki;
Usher, Sali;
Rump, Steffen;
Wollers, Silke;
Bork, Bettina;
Mandel, Hanna;
Falik-Zaccai, Tzipora;
Kalfon, Limor;
Graessler, Juergen;
Zeharia, Avraham;
Heib, Nasser;
Shalev, Hannah;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

Xanthine Stone in the Urinary Bladder of a Male Child.

Published in:

Urologia Internationalis, 1999, v. 63, n. 4, p. 242, doi. 10.1159/000030458

By:

Kiss, András;
Berényi, Mihály;
Csontai, Ágoston

Publication type:

Article

Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.

Published in:

Journal of Feline Medicine & Surgery, 2024, v. 26, n. 5, p. 1, doi. 10.1177/1098612X241241408

By:

Pritchard, Emily C;
Haase, Bianca;
Wall, Meredith J;
O'Brien, Carolyn R;
Gowan, Richard;
Mizzi, Kim;
Kicinski, Annie;
Podadera, Juan;
Boland, Lara A

Publication type:

Article

Characterisation and evaluation of predisposing factors for the development of xanthinuria in dogs with leishmaniosis under allopurinol therapy.

Published in:

Parasites & Vectors, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13071-025-06731-0

By:

Oliveira, Sara Clemente;
Arenas, Carolina;
Domínguez-Ruiz, Marina;
Prosper, Eva;
Dias, Maria Joana;
Leal, Rodolfo Oliveira

Publication type:

Article

Fortuitous Discovery of Hereditary Xanthinuria.

Published in:

Clinical Laboratory, 2020, v. 66, n. 10, p. 2143, doi. 10.7754/Clin.Lab.2020.200253

By:

Biaz, Asmaa;
Tazi, Sophia;
Bouhsain, Sanae;
Chemsi, Mohammed;
Dami, Abdellah;
El Machtani-Idrissi, Samira

Publication type:

Article

Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria.

Published in:

Indian Journal of Nephrology, 2024, v. 34, n. 4, p. 403, doi. 10.25259/ijn_509_23

By:

Kota, Mahesh;
Madarasu, Rajasekara Chakravarthi;
Penmetsa, Vijay Varma;
Gutta, Srinivas;
Naidu, Aniketh

Publication type:

Article

Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.

Published in:

Nephron, 2024, v. 148, n. 8, p. 578, doi. 10.1159/000536248

By:

Gonçalves, Pedro Lisboa;
Diniz, Hugo;
Tavares, Isabel;
Dória, Sofia;
Dong, Juan;
Kyriss, McKenna;
Fairbanks, Lynette;
Oliveira, João Paulo

Publication type:

Article

Human Xanthine Oxidase Changes its Substrate Specificity to Aldehyde Oxidase Type upon Mutation of Amino Acid Residues in the Active Site: Roles of Active Site Residues in Binding and Activation of Purine Substrate.

Published in:

Journal of Biochemistry, 2007, v. 141, n. 4, p. 513, doi. 10.1093/jb/mvm053

By:

Yamaguchi, Yuichiro;
Matsumura, Tomohiro;
Ichida, Kimiyoshi;
Okamoto, Ken;
Nishino, Takeshi

Publication type:

Article

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045217

By:

Piret, Sian E.;
Esapa, Christopher T.;
Gorvin, Caroline M.;
Head, Rosie;
Loh, Nellie Y.;
Devuyst, Olivier;
Thomas, Gethin;
Brown, Steve D. M.;
Brown, Matthew;
Croucher, Peter;
Cox, Roger;
Thakker, Rajesh V.;
Shree Ram Singh

Publication type:

Article

Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

Published in:

Nephrology Dialysis Transplantation, 2003, v. 18, n. 11, p. 2278, doi. 10.1093/ndt/gfg385

By:

F. Gok;
K. Ichida;
R. Topaloglu

Publication type:

Article

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.

Published in:

Human Genetics, 2001, v. 108, n. 4, p. 279, doi. 10.1007/s004390100477

By:

Sakamoto, Norikazu;
Yamamoto, Tetsuya;
Moriwaki, Yuji;
Teranishi, Tetsuya;
Toyoda, Masanori;
Onishi, Yutaka;
Kuroda, Shoji;
Sakaguchi, Kazuhiko;
Fujisawa, Takashi;
Maeda, Mitsuo;
Hada, Toshikazu

Publication type:

Article

Candidate causative variant for xanthinuria in a Domestic Shorthair cat.

Published in:

Animal Genetics, 2023, v. 54, n. 4, p. 576, doi. 10.1111/age.13318

By:

Pritchard, Emily;
Samaha, Georgina;
Mizzi, Kim;
Boland, Lara;
Haase, Bianca

Publication type:

Article

PURINE DISORDERS WITH HYPOURICEMIA.

Published in:

Contributions / Prilozi (1857-9345), 2014, v. 35, n. 1, p. 87

By:

Sebesta, Ivan;
Stiburkova, Blanka

Publication type:

Article

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Published in:

BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0904-4

By:

Murgiano, Leonardo;
Jagannathan, Vidhya;
Piffer, Christian;
Diez-Prieto, Inmaculada;
Bolcato, Marilena;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

Crystalline Deposits in Striped Muscle in Xanthinuria.

Published in:

Nature, 1969, v. 221, n. 5176, p. 170, doi. 10.1038/221170a0

By:

CHALMERS, R. A.;
WATTS, R. W. E.;
PALLIS, C.;
BITENSKY, L.;
CHAYEN, J.

Publication type:

Article

Two successive pregnancies in a woman with xanthinuria: Unexpected increase in serum uric acid levels.

Published in:

Journal of Perinatal Medicine, 1980, v. 8, n. 6, p. 284

By:

Uzan, S.;
Beaufils, M.;
Ragot, J.;
Brault, D.;
Donsimoni, R.

Publication type:

Article

Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 7, p. 1045, doi. 10.1007/s00467-006-0149-8

By:

Sikora, Przemysław;
Pijanowska, Monika;
Majewski, Marek;
Bieniaś, Beata;
Borzęcka, Halina;
Zajczkowska, Małgorzata

Publication type:

Article

Xanthine urolithiasis in a Cavalier King Charles spaniel.

Published in:

Veterinary Record: Journal of the British Veterinary Association, 2011, v. 169, n. 8, p. 209, doi. 10.1136/vr.d3932

By:

Gow, A. G.;
Fairbanks, L. D.;
Simpson, J. W.;
Jacinto, A. M. L.;
Ridyard, A. E.

Publication type:

Article

XANTHINE STONE AND XANTHINURIA ASSOCIATED WITH RETROCAVAL URETER: REPORT OF A CASE AND A REVIEW OF THE LITERATURE.

Published in:: Japanese Journal of Urology / Nihon Hinyokika Gakkai Zasshi, 1976, v. 67, n. 8, p. 670
Publication type:: Article

Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report.

Published in:

2020

By:

Kubihal, Suraj;
Goyal, Alpesh;
Singla, Rajiv;
Khadgawat, Rajesh

Publication type:

Letter

XANTHINURIA.

Published in:: Nutrition Reviews, 1954, v. 12, n. 7, p. 200, doi. 10.1111/j.1753-4887.1954.tb03284.x
Publication type:: Article

Enzyme Defect in a Case of Xanthinuria.

Published in:

Nature, 1964, v. 201, n. 4917, p. 395, doi. 10.1038/201395a0

By:

WATTS, RICHARD W. E.;
ENGELMAN, KARL;
KLINENBERG, JAMES R.;
SEEGMILLER, J. EDWIN;
SJOERDSMA, ALBERT

Publication type:

Article

Screening inhibitors of xanthine oxidase from natural products using enzyme immobilized magnetic beads by high-performance liquid chromatography coupled with tandem mass spectrometry.

Published in:

Journal of Separation Science, 2017, v. 40, n. 9, p. 1877, doi. 10.1002/jssc.201601438

By:

Wang, Ting;
Li, Dapeng;
Yu, Boyang;
Qi, Jin

Publication type:

Article

Xanthine oxidase inhibition alleviates the cardiac complications of insulin resistance: effect on low grade inflammation and the angiotensin system.

Published in:

Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0445-9

By:

El-Bassossy, Hany M.;
Watson, Malcolm L.

Publication type:

Article

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 45, doi. 10.1002/jmd2.12077

By:

Peretz, Hava;
Korostishevsky, Michael;
Steinberg, David M.;
Kabha, Mustafa;
Usher, Sali;
Krause, Irit;
Shalev, Hannah;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

Microscopic studies on crystals in skeletal muscle from two cases of xanthinuria.

Published in:

Journal of Pathology, 1969, v. 99, n. 1, p. 45, doi. 10.1002/path.1710990107

By:

Chalmers, R. A.;
Watts, R. W. E.;
Bitensky, Lucille;
Chayen, J.

Publication type:

Article

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

Published in:

Internal Medicine, 2022, v. 61, n. 9, p. 1383, doi. 10.2169/internalmedicine.7897-21

By:

Satoshi Miyazaki;
Toshihiro Hamada;
Shinobu Sugihara;
Einosuke Mizuta;
Yusuke Endo;
Akira Ohtahara;
Koji Komatsu;
Masanari Kuwabara;
Tomoko Fukuuchi;
Kiyoko Kaneko;
Kimiyoshi Ichida;
Kazuhide Ogino;
Haruaki Ninomiya;
Kazuhiro Yamamoto;
Takashi Nakamura;
Ichiro Hisatome

Publication type:

Article

Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics.

Published in:

2023

By:

Kuhara, Tomiko;
Tetsuo, Masahiro;
Ohse, Morimasa;
Shirakawa, Toshihiko;
Nakashima, Yumiko;
Yoshiura, Koh‐ichiro;
Tanaka, Nagaaki;
Taya, Tadashi

Publication type:

Case Study

UN CASO DI XANTINURIA IN UNA PAZIENTE CON MARCATA IPOURICEMIA.

Published in:

Giornale Italiano di Nefrologia, 2011, v. 28, n. 6, p. 648

By:

Martella, Vilma;
Sozzo, Efisio;
Montagna, Elio;
Stefanizzi, Salvatore;
Cito, Annarita;
Marinello, Enrico;
Terzuoli, Lucia;
Micheli, Vanna;
Napoli, Marcello

Publication type:

Article

Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.

Published in:

Clinical Nephrology, 2013, v. 79, n. 1, p. 78, doi. 10.5414/CN106994

By:

Eggermann, Thomas;
Spengler, Sabrina;
Denecke, Bernd;
Zerres, Klaus;
Mache, Christoph J.

Publication type:

Article

Hyperuricaemia, Xanthine Oxidoreductase and Ribosome-Inactivating Proteins from Plants: The Contributions of Fiorenzo Stirpe to Frontline Research.

Published in:

Molecules, 2017, v. 22, n. 2, p. 206, doi. 10.3390/molecules22020206

By:

Bolognesi, Andrea;
Bortolotti, Massimo;
Battelli, Maria Giulia;
Polito, Letizia

Publication type:

Article

The lowest uric acid in kidney transplant and review of literature.

Published in:

International Journal of Organ Transplantation Medicine, 2022, v. 13, n. 1, p. 60

By:

Roozbeh, J.;
Dehghani, A.;
Haghpanah, A.;
Malekmakan, L.

Publication type:

Article

Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-87751-9

By:

Terada, Kazuki;
Watanabe, Tamaki;
Yasuno, Nobuhiro;
Ohtsubo, Toshio;
Shibata, Shigeru;
Ichida, Kimiyoshi;
Hosoyamada, Makoto

Publication type:

Article

Ureteral Xanthine Calculus and Aberrant Umbilical Artery Causing Ureteral Obstruction.

Published in:

Urologia Internationalis, 1997, v. 58, n. 3, p. 189, doi. 10.1159/000282980

By:

Frankenschmidt, Alexander;
Pohl, Martin;
Zimmerhackl, Lothar B.;
Sommerkamp, Horst

Publication type:

Article

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia.

Published in:

Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071584

By:

Miyamoto, Daisuke;
Sato, Nana;
Nagata, Koji;
Sakai, Yukinao;
Sugihara, Hitoshi;
Ohashi, Yuki;
Stiburkova, Blanka;
Sebesta, Ivan;
Ichida, Kimiyoshi;
Okamoto, Ken

Publication type:

Article

Hypouricemia and Urate Transporters.

Published in:

Biomedicines, 2022, v. 10, n. 3, p. 652, doi. 10.3390/biomedicines10030652

By:

Otani, Naoyuki;
Ouchi, Motoshi;
Misawa, Kazuharu;
Hisatome, Ichiro;
Anzai, Naohiko

Publication type:

Article

Modified forearm ischemic test in hypouricemic patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2020, v. 39, n. 10-12, p. 1432, doi. 10.1080/15257770.2020.1750636

By:

Sebesta, Ivan;
Miyamoto, Daisuke;
Stiburkova, Blanka;
Blahova, Sarka;
Sato, Nana;
Nagata, Koji;
Okamoto, Ken;
Tsuruoka, Shuichi;
Ichida, Kimiyoshi

Publication type:

Article

Hypouricemia with recurrent nephrolithiasis: an overlooked entity: Answers.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 10, p. 3283, doi. 10.1007/s00467-023-06003-y

By:

Aydin, Zehra;
Bilgin, Huseyin;
Cilasun, Ceyda;
Aydin, Ilyas Halil

Publication type:

Article