Works matching Lesch-Nyhan syndrome

Results: 339

Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis.

Published in:

2007

By:

Levart, Tanja Kersnik

Publication type:

Report

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

A Preventive Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report.

Published in:

Pediatric Dentistry, 2006, v. 28, n. 4, p. 341

By:

Tae-Sung Jeong;
Ji-Hyun Lee;
Shin Kim;
Ji-Hoon Kim;
Tootla, Ruwaida G. H.

Publication type:

Article

New personalized genetic mouse model of Lesch- Nyhan syndrome for pharmacology and gene therapy.

Published in:

Research Results in Pharmacology, 2018, v. 4, n. 4, p. 115, doi. 10.3897/rrpharmacology.4.32209

By:

Kalmykov, Vladislav A.;
Kusov, Pavel A.;
Yablonskaia, Maria I.;
Korshunov, Evgeniy N.;
Korshunova, Diana S.;
Kubekina, Marina V.;
Silaeva, Yuliya Yu.;
Deykin, Alexey V.;
Lukyanov, Nikolay E.

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

Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.

Published in:

2006

By:

Hou, Jia-Woei

Publication type:

journal article

Self-mutilation behaviour in Lesch–Nyhan syndrome.

Published in:

Journal of Oral Pathology & Medicine, 2005, v. 34, n. 9, p. 573, doi. 10.1111/j.1600-0714.2005.00330.x

By:

Cauwels, R. G. E. C.;
Martens, L. C.

Publication type:

Article

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

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

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

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

Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.

Published in:

2011

By:

Oh, Mi;
Ham, Byeong;
Kang, Seok;
Bae, Jae;
Kim, Je;
Yoo, Ki;
Yoon, Duck;
Moon, Du

Publication type:

Report

METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.

Published in:

Journal of Advanced Scientific Research, 2020, v. 11, p. 31

By:

Rami, Esha;
Bhatt, Nishchay;
Wadhwani, Nisha;
Sharma, Anushka

Publication type:

Article

METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.

Published in:

Journal of Advanced Scientific Research, 2020, v. 11, p. 31

By:

Rami, Esha;
Bhatt, Nishchay;
Wadhwani, Nisha;
Sharma, Anushka

Publication type:

Article

Lesch-Nyhan syndrome: A case report.

Published in:

2008

By:

A., Kale;
K., Shah;
S., Hallikerimath

Publication type:

Case Study

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.

Published in:

Metabolic Brain Disease, 2012, v. 27, n. 2, p. 193, doi. 10.1007/s11011-012-9279-9

By:

Kállay, Krisztián;
Liptai, Zoltán;
Benyó, Gábor;
Kassa, Csaba;
Goda, Veronika;
Sinkó, János;
Tóth, Ágnes;
Kriván, Gergely

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

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

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

Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.

Published in:

Clinical Laboratory, 2018, v. 64, p. 197, doi. 10.7754/Clin.Lab.2017.170813

By:

Jiao Huang;
Chu Zhang;
Qinxian Guo;
Xianfeng Zhang;
Lizhen Ma;
Yuhong Zhan;
Yu Chen

Publication type:

Article

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

Published in:

2018

By:

Shields, Lisa B. E.;
Peppas, Dennis S.;
Rosenberg, Eran

Publication type:

journal 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

Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 7, p. 1019, doi. 10.1007/s00467-005-1837-5

By:

Maruyama, Kenichi;
Hamajima, Akito;
Shimizu, Nobuzo

Publication type:

Article

Botulinum toxin as a novel treatment for self-mutilation in Lesch–Nyhan syndrome.

Published in:

Developmental Medicine & Child Neurology, 2005, v. 47, n. 9, p. 636, doi. 10.1017/S0012162205001246

By:

Edward Dabrowski;
Sarah A Smathers;
Curt S Ralstrom;
Michael A Nigro;
Jimmie P Leleszi

Publication type:

Article

LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.

Published in:

2014

By:

Gupta, Mrinal;
Mahajan, Vikram K.;
Sharma, Vikas;
Chauhan, Pushpinder S.;
Mehta, Karaninder S.

Publication type:

Case Study

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

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

Published in:: 2011
Publication type:: Abstract

Clinical utility gene card for: Lesch-Nyhan Syndrome - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.304

By:

Torres, Rosa J;
Puig, Juan G;
Ceballos-Picot, Irène

Publication type:

Article

Clinical utility gene card for: Lesch-Nyhan syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.109

By:

Torres, Rosa J.;
Puig, Juan G.;
Ceballos-Picot, Irène

Publication type:

Article

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2007, v. 2, p. 48, doi. 10.1186/1750-1172-2-48

By:

Torres, Rosa J.;
Puig, Juan G.

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

Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report Scientific correspondence Scientific correspondence.

Published in:

Neuropathology & Applied Neurobiology, 2010, v. 36, n. 7, p. 680, doi. 10.1111/j.1365-2990.2010.01125.x

By:

Stall, J. N.;
Hawley, D. A.;
Hagen, M. C.;
Bull, M. J.;
Hattab, E. M.

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

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

Lesch-Nyhan syndrome in two brothers: Why early diagnosis is essential.

Published in:

Clinical Pediatrics, 1994, v. 33, n. 2, p. 125, doi. 10.1177/000992289403300214

By:

Mangano, M.;
Azzia, N.

Publication type:

Article

Restraint fading and alternate management strategies to treat a man with Lesch–Nyhan syndrome over a 2 year period.

Published in:

Behavioral Interventions, 1997, v. 12, n. 4, p. 195, doi. 10.1002/(SICI)1099-078X(199710)12:4<195::AID-BRT178>3.0.CO;2-F

By:

Obi, Charles

Publication type:

Article

Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome.

Published in:

Molecular Human Reproduction, 1998, v. 4, n. 8, doi. 10.1093/molehr/4.8.785

By:

Daniels, R;
Adjaye, J;
Bolton, V;
Monk, M

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

HPRT1 基因变异致 Lesch-Nyhan 综合征的产前诊断及遗传咨询.

Published in:

Journal of International Obstetrics & Gynecology, 2022, v. 49, n. 3, p. 345, doi. 10.12280/gjfckx.20210903

By:

郜珊珊;
代鹏;
赵干业;
孔祥东

Publication type:

Article

Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 408, doi. 10.1186/s13023-014-0208-3

By:

Pozzi, Marco;
Piccinini, Luigi;
Gallo, Maurizio;
Motta, Francesco;
Radice, Sonia;
Clementi, Emilio

Publication type:

Article

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

Published in:

Maedica - a Journal of Clinical Medicine, 2023, v. 18, n. 2, p. 348, doi. 10.26574/maedica.2023.18.2.348

By:

ROZA, Eugenia;
BALOI, Anca Denisa;
PLAIASU, Vasilica;
TELEANU, Raluca Ioana

Publication type:

Article

Differential diagnosis in patients with osahs and concomitant genetic syndromes: a case of lesch-nyhan syndrome.

Published in:

2022

By:

Leahy, Letícia;
Leila Brotto, Marcia;
Hamerschmidt, Rogerio;
Carolina Fontana, Luana;
Caldas Bufara, Danielle;
de Souza Crippa, Ana Chrystina;
Braz Pereira, Karolayne

Publication type:

Case Study

Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.

Published in:

2021

By:

Manokaran, Ranjith;
Jauhari, Prashant;
Chakrabarty, Biswaroop;
Gupta, Neerja;
Kumar, Atin;
Gulati, Sheffali;
Manokaran, Ranjith K

Publication type:

Case Study

Lesch–Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports.

Published in:

International Journal of Clinical Pediatric Dentistry, 2024, v. 17, n. 12, p. 1431, doi. 10.5005/jp-journals-10005-2990

By:

Negi, Sapna;
Tripathy, Snehasish;
Merchant, Yash;
Mathur, Ankita;
Mehta, Vini

Publication type:

Article

Xanthine Calculi in the Patient with the Lesch-Nyhan Syndrome Associated with Urinary Tract Infection.

Published in:

Urologia Internationalis, 1985, v. 40, n. 3, p. 138, doi. 10.1159/000281067

By:

Oka, Toshitsugu;
Utsunomiya, Masato;
Ichikawa, Yasuji;
Koide, Takuo;
Takaha, Minaio;
Mimaki, Takashi;
Sonoda, Takao

Publication type:

Article

Removable Appliance for Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report.

Published in:

Journal of Dental School, Shahid Beheshti University of Medical Sciences, 2020, v. 38, n. 2, p. 90, doi. 10.22037/jds.v38i2.31743

By:

Tahmasbi, Soodeh;
Mohamadian, Fatemeh;
Davani, Shiva Tavakol;
Eftekhar, Leila

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

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

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