Works matching DE "LESCH-Nyhan syndrome"

Results: 185

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

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

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

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

Adenosine Transport in HPRT Deficient Lymphocytes from Lesch-Nyhan Disease Patients.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1193, doi. 10.1081/NCN-200027463

By:

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

Publication type:

Article

Lesch–Nyhan syndrome: a preventive approach to self-mutilation.

Published in:

International Journal of Paediatric Dentistry, 2003, v. 13, n. 1, p. 51, doi. 10.1046/j.1365-263X.2003.00412.x

By:

Fardi, K.;
Topouzelis, N.;
Kotsanos, N.

Publication type:

Article

Differential responses to mitogen stimulation in lymphocytes from normal individuals and Lesch-Nyhan patients: influence of the bicarbonate buffer system.

Published in:

Clinical & Experimental Immunology, 1980, v. 42, n. 2, p. 294

By:

Gausset, P. H.;
Vamos, E.;
Delespesse, G.;
Kulakowski, S.;
Ducha-Teau, J.;
de Bruyn, C.

Publication type:

Article

Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.

Published in:

Clinical & Experimental Immunology, 1978, v. 31, n. 2, p. 205

By:

Gelfand, E. W.;
Fox, I. H.;
Stuckey, M.;
Dosch, H.-M.

Publication type:

Article

Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report.

Published in:: 2011
Publication type:: Abstract

Induction and characterization of hypoxanthine-phosphoribosyltransferase (Hprt[sup –] ) deficient cell lines of Akodon cursor (Rodentia, Sigmodontinae).

Published in:

Cytogenetics & Cell Genetics, 2001, v. 92, n. 1/2, p. 153, doi. 10.1159/000056888

By:

Bonvicino, C. R.;
Moreira, M. A. M.;
Arcuri, R. A.;
Seuánez, H. N.

Publication type:

Article

Habitual biting of a finger in a child.

Published in:

Indian Journal of Paediatric Dermatology, 2017, v. 18, n. 4, p. 341, doi. 10.4103/2319-7250.193006

By:

Sarveswari, K. N.;
Jasmine, M. Riswana;
Mahesh, N.

Publication type:

Article

The human β-amyloid precursor protein: biomolecular and epigenetic aspects.

Published in:

Biomolecular Concepts, 2015, v. 6, n. 1, p. 11, doi. 10.1515/bmc-2014-0041

By:

Khue Vu Nguyen

Publication type:

Article

Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase: Intermediate Enzyme Deficiency in Heterozygote Red Cells.

Published in:

Annals of Internal Medicine, 1972, v. 76, n. 2, p. 285, doi. 10.7326/0003-4819-76-2-285

By:

Emmerson, B. T.;
Thompson, C. J.;
Wallace, D. C.

Publication type:

Article

Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population.

Published in:

Annals of Internal Medicine, 1972, v. 76, n. 2, p. 255, doi. 10.7326/0003-4819-76-2-255

By:

Tsai-Fan Yu;
Balis, M. Earl;
Krenitsky, Thomas A.;
Dancis, Joseph;
Silvers, David N.;
Elion, Gertrude B.;
Gutman, Alexander B.

Publication type:

Article

Pallidal Deep-Brain Stimulation Associated With Complete Remission of Self-injurious Behaviors in a Patient With Lesch-Nyhan Syndrome: A Case Report.

Published in:

2012

By:

Deon, Laura L.;
Kalichman, Miriam A.;
Booth, Cynthia L.;
Slavin, Konstantin V.;
Gaebler-Spira, Deborah J.

Publication type:

Case Study

An unanticipated difficult airway in Lesch--Nyhan syndrome.

Published in:

2012

By:

Salhotra, Rashmi;
Sharma, Chhavi;
Tyagi, Asha;
Kumar, Surendra;
Sethi, A. K.;
Bhatt, Shuchi

Publication type:

Case Study

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0219-0

By:

Ceballos-Picot, Irène;
Le Dantec, Aurélia;
Brassier, Anaïs;
Jaïs, Jean-Philippe;
Ledroit, Morgan;
Cahu, Julie;
Hang-Korng Ea;
Daignan-Fornier, Bertrand;
Pinson, Benoît

Publication type:

Article

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 39, doi. 10.1186/s13023-014-0219-0

By:

Ceballos-Picot, Irène;
Le Dantec, Aurélia;
Brassier, Anaïs;
Jaïs, Jean-Philippe;
Ledroit, Morgan;
Cahu, Julie;
Hang-Korng Ea;
Daignan-Fornier, Bertrand;
Pinson, Benoît

Publication type:

Article

Antiproliferative effects induced by guanine-based purines require hypoxanthine-guanine phosphoribosyltransferase activity.

Published in:

Biological Chemistry, 2010, v. 391, n. 9, p. 1079, doi. 10.1515/BC.2010.106

By:

Garozzo, Roberta;
Sortino, Maria Angela;
Vancheri, Carlo;
Condorelli, Daniele Filippo

Publication type:

Article

Oral self-injury. An update.

Published in:

Dental Traumatology, 2013, v. 29, n. 1, p. 8, doi. 10.1111/j.1600-9657.2012.01121.x

By:

Limeres, Jacobo;
Feijoo, Javier F;
Baluja, Fernando;
Seoane, Juan Manuel;
Diniz, Marcio;
Diz, Pedro

Publication type:

Article

Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report Arhakis et al. Effective treatment of self-injurious oral trauma.

Published in:

Dental Traumatology, 2010, v. 26, n. 6, p. 496, doi. 10.1111/j.1600-9657.2010.00930.x

By:

Arhakis, Aristidis;
Topouzelis, Nikolaos;
Kotsiomiti, Eleni;
Kotsanos, Nikolaos

Publication type:

Article

Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87955-9

By:

Sutcliffe, Diane J.;
Dinasarapu, Ashok R.;
Visser, Jasper E.;
Hoed, Joery den;
Seifar, Fatemeh;
Joshi, Piyush;
Ceballos-Picot, Irene;
Sardar, Tejas;
Hess, Ellen J.;
Sun, Yan V.;
Wen, Zhexing;
Zwick, Michael E.;
Jinnah, H. A.

Publication type:

Article

Molecular and functional analysis of hypoxanthine-guanine phosphoribosyltransferase from Arabidopsis thaliana.

Published in:

New Phytologist, 2007, v. 175, n. 3, p. 448, doi. 10.1111/j.1469-8137.2007.02117.x

By:

Xueying Liu;
Weiqiang Qian;
Xin Liu;
Huanju Qin;
Daowen Wang

Publication type:

Article

Stochastic properties of radiation-induced DSB: DSB distributions in large scale chromatin loops, the HPRT gene and within the visible volumes of DNA repair foci.

Published in:

International Journal of Radiation Biology, 2008, v. 84, n. 11, p. 916, doi. 10.1080/09553000802499212

By:

Ponomarev, Artem L.;
Costes, Sylvain V.;
Cucinotta, Francis A.

Publication type:

Article

Self-Injury in Lesch-Nyhan Disease.

Published in:

Journal of Autism & Developmental Disorders, 1994, v. 24, n. 1, p. 67, doi. 10.1007/BF02172213

By:

Anderson, Lowell T.;
Ernst, Monique

Publication type:

Article

Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.

Published in:

Indian Journal of Psychological Medicine, 2016, v. 38, n. 5, p. 477, doi. 10.4103/0253-7176.191389

By:

Mohapatra, Satyakam;
Sahoo, Alok Jyoti

Publication type:

Article

Identification and evaluation of endogenous reference genes for steady state transcript quantification by qPCR in the diatom Phaeodactylum tricornutum with constitutive expression independent from time and light.

Published in:

Endocytobiosis & Cell Research, 2013, v. 24, p. 1

By:

Sachse, Matthias;
Sturm, Sabine;
Gruber, Ansgar;
Kroth, Peter G.

Publication type:

Article

Research on genes: promises and limitations.

Published in:

Journal of Psychiatry & Neuroscience, 1999, v. 24, n. 4, p. 300

By:

Young, Simon N.;
Palmour, Roberta M.

Publication type:

Article

Functional Organization of a Schwann Cell Enhancer.

Published in:

Journal of Neuroscience, 2005, v. 25, n. 48, p. 11210, doi. 10.1523/JNEUROSCI.2596-05.2005

By:

Denarier, Eric;
Forghani, Reza;
Farhadi, Hooman F.;
Dib, Samar;
Dionne, Nancy;
Friedman, Hana C.;
Lepage, Pierre;
Hudson, Thomas J.;
Drouin, Régen;
Peterson, Alan

Publication type:

Article