Works matching DE "LESCH-Nyhan syndrome"

Results: 185

Aicar effect in early neuronal development.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2018, v. 37, n. 5, p. 261, doi. 10.1080/15257770.2018.1453073

By:

Torres, Rosa J.;
Puig, Juan G.

Publication type:

Article

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 11, p. 704, doi. 10.1080/15257770.2017.1395037

By:

Nguyen, Khue Vu;
Naviaux, Robert K.;
Nyhan, William L.

Publication type:

Article

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 7, p. 452, doi. 10.1080/15257770.2017.1315434

By:

Nguyen, Khue Vu;
Silva, Sebastian;
Troncoso, Monica;
Naviaux, Robert K.;
Nyhan, William L.

Publication type:

Article

Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 2, p. 151, doi. 10.1080/15257770.2016.1231319

By:

Nguyen, Khue Vu;
Naviaux, Robert K.;
Nyhan, William L.

Publication type:

Article

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Published in:

2017

By:

Baba, Shimpei;
Saito, Takashi;
Yamada, Yasukazu;
Takeshita, Eri;
Nomura, Noriko;
Yamada, Kenichiro;
Wakamatsu, Nobuaki;
Sasaki, Masayuki

Publication type:

Case Study

Development of new forms of self-injurious behavior following total dental extraction in Lesch–Nyhan disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 10-12, p. 524, doi. 10.1080/15257770.2016.1184276

By:

Gisbert de la Cuadra, Livia;
Torres, Rosa J.;
Beltrán, Luis M.;
Sánchez, Arantxa;
Puig, Juan G.

Publication type:

Article

A review of the implication of hypoxanthine excess in the physiopathology of Lesch–Nyhan disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 10-12, p. 507, doi. 10.1080/15257770.2016.1147579

By:

Torres, R. J.;
Prior, C.;
Garcia, M. G.;
Puig, J. G.

Publication type:

Article

Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 8, p. 426, doi. 10.1080/15257770.2015.1098660

By:

Nguyen, Khue Vu;
Nyhan, William L.

Publication type:

Article

Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2015, v. 34, n. 10, p. 674, doi. 10.1080/15257770.2015.1071844

By:

Nguyen, Khue Vu

Publication type:

Article

Lesch–Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2015, v. 34, n. 6, p. 442, doi. 10.1080/15257770.2015.1014492

By:

Nguyen, Khue Vu;
Nyhan, William L.

Publication type:

Article

Transcriptomic Approach to Lesch-Nyhan Disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 208, doi. 10.1080/15257770.2014.880477

By:

Dauphinot, Luce;
Mockel, Lionel;
Cahu, Julie;
Jinnah, H. A.;
Ledroit, Morgan;
Potier, Marie-Claude;
Ceballos-Picot, Irène

Publication type:

Article

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: HPRT1 Mutations in New Japanese Families and PRPP Concentration.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 218, doi. 10.1080/15257770.2013.865743

By:

Yamada, Yasukazu;
Nomura, Noriko;
Yamada, Kenichiro;
Kimura, Reiko;
Fukushi, Daisuke;
Wakamatsu, Nobuaki;
Matsuda, Yasufumi;
Yamauchi, Takahiro;
Ueda, Takanori;
Hasegawa, Hiroshi;
Nakamura, Makiko;
Ichida, Kimiyoshi;
Kaneko, Kiyoko;
Fujimori, Shin

Publication type:

Article

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 233, doi. 10.1080/15257770.2013.854381

By:

Castro, M.;
Carrillo, R.;
García, F.;
Sanz, P.;
Ferrer, I.;
Ruiz-Sala, P.;
Vega, A. I.;
Ruíz Desviat, L.;
Pérez, B.;
Pérez-Cerdá, C.;
Merinero, B.;
Ugarte, M.

Publication type:

Article

HPRT Deficiency in Spain: What Have We Learned in the Past 30 Years (1984–2013)?

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 223, doi. 10.1080/15257770.2013.853784

By:

Torres, R. J.;
Prior, C.;
Garcia, M. G.;
Beltran, L. M.;
Puig, J. G.

Publication type:

Article

Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 4, p. 189, doi. 10.1080/15257770.2013.774013

By:

Jian*, Wei-Xia;
Peng*, Wen-Hui;
Li, Hai-Ling;
Feng, Qi-Wen;
Wang, Wei-Xing;
Su, Qing

Publication type:

Article

Quantitative Evaluation of the Clinical Effects of S -Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 4, p. 174, doi. 10.1080/15257770.2013.774012

By:

Dolcetta, Diego;
Parmigiani, Pietro;
Salmaso, Luigi;
Bernardelle, Roberta;
Cesari, Ugo;
Andrighetto, Gilberto;
Baschirotto, Giuseppe;
Nyhan, WilliamL.;
Hladnik, Uros

Publication type:

Article

Identification of Novel Mutations in the Human HPRT Gene.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 3, p. 155, doi. 10.1080/15257770.2012.742200

By:

Nguyen, KhueVu;
Nyhan, WilliamL.

Publication type:

Article

Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2012, v. 31, n. 8, p. 616, doi. 10.1080/15257770.2012.714028

By:

Nguyen, KhueVu;
Naviaux, RobertK.;
Paik, KacieK.;
Nakayama, Tomohiro;
Nyhan, WilliamL.

Publication type:

Article

Simultaneous Determination of Purine and Pyrimidine Metabolites in Hprt-Deficient Cell Lines.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1256, doi. 10.1080/15257770.2011.616565

By:

Yamaoka, N.;
Inazawa, K.;
Inagawa, S.;
Yasuda, M.;
Mawatari, K.;
Nakagomi, K.;
Fujimori, S.;
Yamada, Y.;
Kaneko, K.

Publication type:

Article

Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1266, doi. 10.1080/15257770.2011.608396

By:

Taniguchi, A.;
Yamada, Y.;
Hakoda, M.;
Sekita, C.;
Kawamoto, M.;
Kaneko, H.;
Yamanaka, H.

Publication type:

Article

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1248, doi. 10.1080/15257770.2011.603714

By:

Yamada, Y.;
Wakamatsu, N.;
Taniguchi, A.;
Kaneko, K.;
Fujimori, S.

Publication type:

Article

Allopurinol Enhances the Activity of Hypoxanthine-Guanine Phosphoribosyltransferase in Inflammatory Bowel Disease Patients During Low-Dose Thiopurine Therapy: Preliminary Data of an Ongoing Series.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1085, doi. 10.1080/15257770.2011.597371

By:

Seinen, MargienL.;
de Boer, NanneK. H.;
Smid, Kees;
van Asseldonk, DirkP.;
Bouma, Gerd;
van Bodegraven, AdriaanA.;
Peters, GodefridusJ.

Publication type:

Article

Molecular Analysis of X-Linked Inborn Errors of Purine Metabolism: HPRT1 and PRPS1 Mutations.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1272, doi. 10.1080/15257770.2011.597369

By:

Yamada, Yasukazu;
Yamada, Kenichiro;
Nomura, Noriko;
Yamano, Arisa;
Kimura, Reiko;
Naiki, Misako;
Fukushi, Daisuke;
Wakamatsu, Nobuaki;
Taniguchi, Atsuo;
Yamaoka, Noriko;
Kaneko, Kiyoko;
Fujimori, Shin

Publication type:

Article

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1260, doi. 10.1080/15257770.2011.590172

By:

Corrigan, A.;
Arenas, M.;
Escuredo, E.;
Fairbanks, L.;
Marinaki, A.

Publication type:

Article

Novel Mutations in the Human HPRT Gene.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 6, p. 440, doi. 10.1080/15257770.2011.588187

By:

Nguyen, KhueVu;
Naviaux, RobertK.;
Paik, KacieK.;
Nyhan, WilliamL.

Publication type:

Article

Limited Intra-Individual Variability in Hypoxanthine-Guanine Phosphoribosyl Transferase, Thiopurine S-Methyl Transferase, and Xanthine Oxidase Activity in Inflammatory Bowel Disease Patients During 6-Thioguanine Therapy.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 284, doi. 10.1080/15257771003730052

By:

van Asseldonk, D.P.;
de Boer, N.K. H.;
Smid, K.;
Mulder, C.J.;
van Bodegraven, A.A.;
Peters, G.J.

Publication type:

Article

Molecular Analysis of Two Enzyme Genes, HPRT1 and PRPS1, Causing X-Linked Inborn Errors of Purine Metabolism.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 291, doi. 10.1080/15257771003738691

By:

Yamada, Y.;
Yamada, K.;
Nomura, N.;
Yamano, A.;
Kimura, R.;
Tomida, S.;
Naiki, M.;
Wakamatsu, N.

Publication type:

Article

Partial HPRT Deficiency Phenotype and Incomplete Splicing Mutation.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 295, doi. 10.1080/15257771003730250

By:

Torres, R.J.;
Garcia, M.G.;
Puig, J.G.

Publication type:

Article

Methylation Status of HPRT1 Promoter in HPRT Deficiency with Normal Coding Region.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 301, doi. 10.1080/15257771003738675

By:

Garcia, M.G.;
Torres, R.J.;
Puig, J.G.

Publication type:

Article

Unusual Presentation of Kelley-Seegmiller Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 648, doi. 10.1080/15257770802143863

By:

Sebesta, I.;
StibÅrková, B.;
Dvorakova, L.;
Hrebicek, M.;
Minks, J.;
Stolnaja, L.;
Vernerova, Z.;
Rychlik, I.

Publication type:

Article

The Role for Glutamic Acid at Position 196 in Human Hypoxanthine Phosphoribosyltransferase (HPRT) as Investigated Using Site-Directed Mutagenesis.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 894, doi. 10.1080/15257770802146593

By:

Canyuk, B.;
E-Wan, A.;
Keawwijit, W.;
Nualnoi, T.;
Sirisatean, L.;
Tansakul, P.;
Tanthana, C.

Publication type:

Article

Lesch-Nyhan Disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 559, doi. 10.1080/15257770802135745

By:

Nyhan, W.L.

Publication type:

Article

The Diagnosis Of HPRT Deficiency in the 21St Century.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 564, doi. 10.1080/15257770802135778

By:

Torres, R.J.;
Puig, J.G.

Publication type:

Article

Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 570, doi. 10.1080/15257770802135869

By:

Yamada, Yasukazu;
Nomura, Noriko;
Yamada, Kenichro;
Wakamatsu, Nobuaki;
Kaneko, Kiyoko;
Fujimori, Shin

Publication type:

Article

Urinary Guanidinoacetate and Creatine Levels in Patients with HPRT Deficiency.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2008, v. 27, n. 6/7, p. 575, doi. 10.1080/15257770802136008

By:

Verdú, A.;
Torres, R.J.;
Merinero, B.;
Puig, J.G.

Publication type:

Article

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2007, v. 26, n. 3, p. 255, doi. 10.1080/15257770701257269

By:

Laróvere, L.E.;
O'Neill, J.P.;
Randall, M.;
Fairbanks, L.D.;
Guelbert, N.;
Czornyj, L.;
de Kremer, R.Dodelson

Publication type:

Article

An Unusual Cause of Renal Amyloidosis Secondary to Gout—the First Description of Familial Occurrence.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1305, doi. 10.1080/15257770600893941

By:

Vernerová, Z.;
Rychlík, I.;
Brunerová, L.;
Dvořáková, L.;
Pavelková, A.;
Šebesta, I.

Publication type:

Article

Effect of Beer Ingestion on the Plasma Concentrations and Urinary Excretion of Purine Bases: One-Month Study.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1083, doi. 10.1080/15257770600893990

By:

Moriwaki, Y.;
Ka, T.;
Takahashi, S.;
Tsutsumi, Z.;
Yamamoto, T.

Publication type:

Article

Hypoxanthine Effect on Equilibrative and Concentrative Adenosine Transport in Human Lymphocytes. Implications in the Phatogenesis of Lesch-Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1065, doi. 10.1080/15257770600890988

By:

Prior, C.;
Torres, R.J.;
Puig, J.G.

Publication type:

Article

Efficacy and Safety of Allopurinol in Patients with the Lesch-Nyhan Syndrome and Partial Hypoxanthine- Phosphoribosyltransferase Deficiency: a Follow-up Study of 18 Spanish Patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1077, doi. 10.1080/15257770600893974

By:

Torres, R.J.;
Prior, C.;
Puig, J.G.

Publication type:

Article

Medical Diagnosis, Management and Treatment of Lesch Nyhan Disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1147, doi. 10.1081/NCN-200027395

By:

McCarthy, Gillian

Publication type:

Article

The Spectrum of Mutations Causing HPRT Deficiency: An Update.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1153, doi. 10.1081/NCN-200027400

By:

Jinnah, H.A.;
Harris, J.C.;
Nyhan, W.L.;
O'Neill, J.P.

Publication type:

Article

The Motor Disorder of Classic Lesch-Nyhan Disease.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1161, doi. 10.1081/NCN-200027432

By:

Visser, JasperE.;
Harris, JamesC.;
Barabas, Gabor;
Eddey, GaryE.;
Jinnah, H.A.

Publication type:

Article

Clinical and Biochemical Manifestations and Molecular Characterization of the Mutation HPRT Jerusalem.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1165, doi. 10.1081/NCN-200027436

By:

Zoref‐Shani, E.;
Bromberg, Y.;
Hirsch, J.;
Feinstein, S.;
Frishberg, Y.;
Sperling, O.

Publication type:

Article

Mutations in the Hypoxanthine Guanine Phosphoribosyltransferase Gene(HPRT1) in Asian HPRT Deficient Families.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1169, doi. 10.1081/NCN-200027439

By:

Yamada, Y.;
Yamada, K.;
Sonta, S.;
Wakamatsu, N.;
Ogasawara, N.

Publication type:

Article

Disruption of the Hypoxanthine-Guanine Phosphoribosyl-Transferase Gene Caused by a Translocation in a Patient with Lesch-Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1173, doi. 10.1081/NCN-200027441

By:

Mizunuma, Makiko;
Yamada, Yasukazu;
Yamada, Kenichiro;
Sonta, Shin‐Ichi;
Wakamatsu, Nobuaki;
Kaneko, Kiyoko;
Ogasawara, Nobuaki;
Fujimori, Shin

Publication type:

Article

Effects of Hypoxanthine on Adenosine Transport in Human Lymphocytes. Implications in the Phatogenesis of Lesch–Nyhan Syndrome.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1177, doi. 10.1081/NCN-200027444

By:

Torres, R.J.;
DeAntonio, I.;
Prior, C.;
Puig, J.G.

Publication type:

Article

Hypoxanthine Effects on Cyclic AMP Levels in Human Lymphocytes.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1181, doi. 10.1081/NCN-200027448

By:

Torres, R.J.;
DeAntonio, I.;
Prior, C.;
Puig, J.G.

Publication type:

Article

Nucleotide Degradation Products in Cerebrospinal Fluid(CSF) in Inherited and Acquired Pathologies.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1185, doi. 10.1081/NCN-200027451

By:

Fairbanks, L.D.;
Harris, J.C.;
Duley, J.A.;
Simmonds, H.A.

Publication type:

Article

Are Allopurinol and Metabolites Found in HPRT Deficient Erythrocytes Responsible for Increased NAD Synthesis?

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1189, doi. 10.1081/NCN-200027454

By:

Micheli, V.;
Jacomelli, G.;
Sestini, S.;
Notarantonio, L.;
Cerboni, B.;
Peruzzi, L.;
Pompucci, G.

Publication type:

Article