Works matching Orotic aciduria

Results: 43

Hereditary orotic aciduria identified by newborn screening.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1135267

By:

Staretz-Chacham, Orna;
Damseh, Nadirah S.;
Daas, Suha;
Salah, Nasser Abu;
Anikster, Yair;
Barel, Ortal;
Dumin, Elena;
Fattal-Valevski, Aviva;
Falik-Zaccai, Tzipora C.;
Hershkovitz, Eli;
Josefsberg, Sagi;
Landau, Yuval;
Lerman-Sagie, Tally;
Mandel, Hanna;
Rock, Rachel;
Rostami, Nira;
Saraf-Levy, Talya;
Lotan, Nava Shaul;
Spiegel, Ronen;
Tal, Galit

Publication type:

Article

Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.819116

By:

Ma, Rui;
Ye, Jing;
Han, Jiaqi;
Gao, Lehong;
Wang, Chaodong;
Wang, Yuping

Publication type:

Article

A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.

Published in:

FEBS Journal, 2010, v. 277, n. 6, p. 1420, doi. 10.1111/j.1742-4658.2010.07573.x

By:

Levitte, Steven;
Salesky, Rebecca;
King, Brian;
Smith, Sage Coe;
Depper, Micah;
Cole, Madeline;
Hermann, Greg J.

Publication type:

Article

Excretion of Orotic Acid and Orotidine in Heterozygotes of Congenital Orotic Aciduria.

Published in:

Nature, 1963, v. 197, n. 4863, p. 194, doi. 10.1038/197194a0

By:

LOTZ, MYRON;
FALLON, HAROLD J.;
SMITH, LLOYD H.

Publication type:

Article

Orotic Aciduria and Arginine Deficiency.

Published in:

Nature, 1973, v. 245, n. 5422, p. 211, doi. 10.1038/245211a0

By:

MILNER, J. A.;
VISEK, W. J.

Publication type:

Article

OROTIC ACIDURIA AND SPECIES SPECIFICITY.

Published in:: Nutrition Reviews, 1984, v. 42, n. 8, p. 292, doi. 10.1111/j.1753-4887.1984.tb02363.x
Publication type:: Article

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 517, doi. 10.1023/A:1005397329395

By:

Vella, S.;
Steiner, F.;
Schlumbom, V.;
Zurbrügg, R.;
Wiesmann, U.;
Schaffner, T.;
Wermuth, B.

Publication type:

Article

Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 354, doi. 10.1023/A:1005369726686

By:

Carpenter, K.;
Potter, M.;
Hammond, J.;
Wilcken, B.

Publication type:

Article

Pyrimidine metabolism in hereditary orotic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 104, doi. 10.1023/A:1005330127995

By:

Sumi, S.;
Suchi, M.;
Kidouchi, K.;
Morishita, H.;
Ohba, S.;
Wada, Y.

Publication type:

Article

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9

By:

Wortmann, Saskia;
Chen, Margaret;
Colombo, Roberto;
Pontoglio, Alessandro;
Alhaddad, Bader;
Botto, Lorenzo;
Yuzyuk, Tatiana;
Coughlin, Curtis;
Descartes, Maria;
Grűnewald, Stephanie;
Maranda, Bruno;
Mills, Philippa;
Pitt, James;
Potente, Catherine;
Rodenburg, Richard;
Kluijtmans, Leo;
Sampath, Srirangan;
Pai, Emil;
Wevers, Ron;
Tiller, George

Publication type:

Article

Orotic aciduria and uridine monophosphate synthase: A reappraisal.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, p. 227, doi. 10.1007/s10545-009-1176-y

By:

Bailey, C.

Publication type:

Article

Oxonate-Induced Hyperuricemia and Orotic Aciduria in Mice.

Published in:

Proceedings of the Society for Experimental Biology & Medicine, 1978, v. 157, n. 1, p. 110, doi. 10.3181/00379727-157-40002

By:

Mangoff, S. C.;
Milner, J. A.

Publication type:

Article

Arginine Deficiency and Orotic Aciduria in Mammals.

Published in:

Proceedings of the Society for Experimental Biology & Medicine, 1975, v. 150, n. 2, p. 282, doi. 10.3181/00379727-150-39020

By:

Milner, J. A.;
Prior, R. L.;
Visek, W. J.

Publication type:

Article

Effect of Glycine on the Induction of Orotic Aciduria and Urinary Bladder Tumorigenesis in the Rat.

Published in:

Toxicologic Pathology, 1987, v. 15, n. 2, p. 194, doi. 10.1177/019262338701500211

By:

Vasudevan, Shanthi;
Laconi, Ezio;
Abanobi, Samuel E.;
Rao, Prema M.;
Rajalakshmi, Srinivasan;
Sarma, Dittakavi S. R.

Publication type:

Article

HEREDITARY OROTIC ACIDURIA AND CITRULLINEMIA: BOVINE MODELS.

Published in:: Nutrition Reviews, 1990, v. 48, n. 4, p. 193, doi. 10.1111/j.1753-4887.1990.tb02932.x
Publication type:: Article

OROTIC ACIDURIA.

Published in:: Nutrition Reviews, 1969, v. 27, n. 5, p. 142, doi. 10.1111/j.1753-4887.1969.tb04997.x
Publication type:: Article

Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-Iododeoxycytidine incorporation as an assay for viral growth.

Published in:

Journal of Cellular Physiology, 1983, v. 114, n. 1, p. 21, doi. 10.1002/jcp.1041140105

By:

Campisi, Judith;
Hafner, Julianne;
Boorstein, Robert;
Pardee, Arthur B.

Publication type:

Article

HEREDITARY OROTIC ACIDURIA.

Published in:

Journal of Paediatrics & Child Health, 1970, v. 6, n. 1, p. 47, doi. 10.1111/j.1440-1754.1970.tb02858.x

By:

SOUTTER, G. B.;
YU, J. S.;
LOVRIC, A.;
STAPLETON, T.

Publication type:

Article

Isolated Orotic Aciduria in an 11-Year-Old Boy.

Published in:

Clinical Chemistry, 2020, v. 66, n. 2, p. 396, doi. 10.1093/clinchem/hvz012

By:

Vakili, Hana;
Umaña, Luis Alfredo;
Patel, Khushbu

Publication type:

Article

Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.

Published in:

European Journal of Clinical Investigation, 1980, v. 10, n. 4, p. 333, doi. 10.1111/j.1365-2362.1980.tb00041.x

By:

SIMMONDS, H. A.;
WEBSTER, D. R.;
BECROFT, D. M. O.;
POTTER, C. F.

Publication type:

Article

Orotic Aciduria and Plasma Urea Cycle-Related Amino Acid Alterations in Short Bowel Syndrome, Evoked by an Arginine-Free Diet.

Published in:

JPEN Journal of Parenteral & Enteral Nutrition, 2004, v. 28, n. 5, p. 315, doi. 10.1177/0148607104028005315

By:

Pita, Ana M.;
Fernandez-Bustos, Angeles;
Rodes, Margarita;
Arranz, Jose A.;
Fisac, Cesar;
Virgili, Nuria;
Soler, Joan;
Wakabayashi, Yasuo

Publication type:

Article

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

Published in:

Canadian Medical Association Journal, 1972, v. 107, n. 6, p. 405

By:

MacLeod, P.;
Mackenzie, S.;
Scriver, C. R.

Publication type:

Article

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Published in:

BMC Pediatrics, 2002, v. 2, p. 12, doi. 10.1186/1471-2431-2-12

By:

Scaglia, Fernando;
Scheuerle, Angela E.;
Towbin, Jeffrey A.;
Armstrong, Dawna L.;
Sweetman, Lawrence;
Wong, Lee-Jun C.

Publication type:

Article

Rzadkie postacie kamicy nerkowej.

Published in:

Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna, 2019, v. 15, n. 1, p. 38, doi. 10.15557/PiMR.2019.0007

By:

Skrzypczyk, Piotr;
Pańczyk-Tomaszewska, Małgorzata

Publication type:

Article

Orotic Acid Induces Hypertension Associated with Impaired Endothelial Nitric Oxide Synthesis.

Published in:

Toxicological Sciences, 2015, v. 144, n. 2, p. 307, doi. 10.1093/toxsci/kfv003

By:

You-Jin Choi;
Yujin Yoon;
Kang-Yo Lee;
Yun-Pyo Kang;
Dong Kyu Lim;
Sung Won Kwon;
Keon-Wook Kang;
Seung-Mi Leet;
Byung-Hoon Lee

Publication type:

Article

Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy.

Published in:

Journal of Child Neurology, 1995, v. 10, n. 5, p. 369, doi. 10.1177/088307389501000506

By:

Pridmore, Clair L.;
Clarke, Joe T.R.;
Blaser, Susan

Publication type:

Article

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.861516

By:

Silvera-Ruiz, Silene M.;
Gemperle, Corinne;
Peano, Natalia;
Olivero, Valentina;
Becerra, Adriana;
Häberle, Johannes;
Gruppi, Adriana;
Larovere, Laura E.;
Motrich, Ruben D.

Publication type:

Article

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 297, doi. 10.1038/6815

By:

Borsani, Giuseppe;
Bassi, Maria Teresa;
Sperandeo, Maria Pia;
Grandi, Alessandro De;
Buoninconti, Anna;
Riboni, Mirko;
Manzoni, Marta;
Incerti, Barbara;
Pepe, Antonio;
Andria, Generoso;
Ballabio, Andrea;
Sebastio, Gianfranco

Publication type:

Article

FDA approves ultra-orphan drug on a 4-patient trial.

Published in:

2015

By:

Mullard, Asher

Publication type:

journal article

Orotate (orotic acid): An essential and versatile molecule.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 10-12, p. 566, doi. 10.1080/15257770.2016.1147580

By:

Löffler, M.;
Carrey, E.A.;
Zameitat, E.

Publication type:

Article

Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 284, doi. 10.1002/acn3.51257

By:

Frederick, Aliya;
Sherer, Kimberly;
Nguyen, Linda;
Ali, Shawn;
Garg, Anupam;
Haas, Richard;
Sahagian, Michelle;
Bui, Jonathan

Publication type:

Article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

Published in:

2020

By:

Selvanathan, Arthavan;
Hertzog, Ashley;
Lemberg, Daniel A.;
Ellaway, Carolyn

Publication type:

journal article

Sustained correction of OTC deficiency in spf ash mice using optimized self-complementary AAV2/8 vectors.

Published in:

Gene Therapy, 2012, v. 19, n. 4, p. 404, doi. 10.1038/gt.2011.111

By:

Wang, L;
Wang, H;
Morizono, H;
Bell, P;
Jones, D;
Lin, J;
McMenamin, D;
Yu, H;
Batshaw, M L;
Wilson, J M

Publication type:

Article

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase ( OTC) gene.

Published in:

Clinical Genetics, 2009, v. 75, n. 5, p. 457, doi. 10.1111/j.1399-0004.2009.01172.x

By:

Quental, R.;
Azevedo, L.;
Rubio, V.;
Diogo, L.;
Amorim, A.

Publication type:

Article

A New Mouse Model of Mild Ornithine Transcarbamylase Deficiency (spf-j) Displays Cerebral Amino Acid Perturbations at Baseline and upon Systemic Immune Activation.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116594

By:

Tarasenko, Tatyana N.;
Rosas, Odrick R.;
Singh, Larry N.;
Kristaponis, Kara;
Vernon, Hilary;
McGuire, Peter J.

Publication type:

Article

Enhanced Uridine Bioavailability Following Administration of a Triacetyluridine-Rich Nutritional Supplement.

Published in:

PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0014709

By:

Weinberg, Melissa E.;
Roman, Mark C.;
Jacob, Peyton;
Wen, Michael;
Cheung, Polly;
Walker, Ulrich A.;
Mulligan, Kathleen;
Schambelan, Morris

Publication type:

Article

ABORDAREA PACIENŢILOR CU PROBLEME IMUNOLOGICE ÎN CADRUL MALADIILOR GENETICE DE METABOLISM.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 1, p. 51

By:

Popescu, Valeriu

Publication type:

Article

The Cyanobacterial Toxin Cylindrospermopsin Inhibits Pyrimidine Nucleotide Synthesis and Alters Cholesterol Distribution in Mice.

Published in:

Toxicological Sciences, 2004, v. 82, n. 2, p. 620, doi. 10.1093/toxsci/kfh267

By:

Reisner, M.;
Carmeli, S.;
Werman, M.;
Sukenik, A.

Publication type:

Article

Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia.

Published in:

1999

By:

Kitaura, J.;
Miki, Y.;
Kato, H.;
Sakakihara, Y.;
Yanagisawa, M.

Publication type:

journal article

Induction and Prevention of Severe Hyperammonemia in the spfash Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery.

Published in:

Molecular Therapy, 2011, v. 19, n. 5, p. 854, doi. 10.1038/mt.2011.32

By:

Cunningham, Sharon C;
Kok, Cindy Y;
Dane, Allison P;
Carpenter, Kevin;
Kizana, Eddy;
Kuchel, Philip W;
Alexander, Ian E

Publication type:

Article

Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus

Published in:

Molecular Therapy, 2004, v. 10, n. 3, p. 492, doi. 10.1016/j.ymthe.2004.05.036

By:

Mian, Asad;
McCormack Jr., W. Michael;
Mane, Viraj;
Kleppe, Soledad;
Ng, Philip;
Finegold, Milton;
O'Brien, William E.;
Rodgers, John R.;
Beaudet, Arthur L.;
Lee, Brendan

Publication type:

Article

Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.

Published in:

Pediatric Nephrology, 1999, v. 13, n. 9, p. 912, doi. 10.1007/s004670050726

By:

Sass, Jörn Oliver;
Skladal, Daniela

Publication type:

Article