Works matching Lesch-Nyhan syndrome

Results: 224

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

Published in:

2007

By:

Levart, Tanja Kersnik

Publication type:

Report

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

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

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

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

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

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

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

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

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

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

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

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

Published in:

2006

By:

Hou, Jia-Woei

Publication type:

journal 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

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

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

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

Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1434, doi. 10.1002/jgc4.1616

By:

Zhang, Tian;
Briere, Julie M.;
Leeman, Kristen T.;
Wojcik, Monica H.;
Agrawal, Pankaj B.

Publication type:

Article

Синдром на Lesch-Nyhan вследствие на нова мутация в HPRT1 гена.

Published in:

Pediatria, 2023, v. 63, n. 2, p. 53

By:

Русков, Т.;
Средкова, M.;
Делчев, Т.;
Велева, Ц.;
Златанова, Г.;
Янкова, С.;
Гайдарова, М.;
Авджиева-Тзавел&, Д.

Publication type:

Article

Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Published in:

Molecular Syndromology, 2016, v. 7, n. 6, p. 302, doi. 10.1159/000449296

By:

Bell, Scott;
Kolobova, Ilaria;
Crapper, Liam;
Ernst, Carl

Publication type:

Article

Deep brain stimulation in Lesch-Nyhan syndrome: a systematic review.

Published in:

Neurosurgical Review, 2023, v. 46, n. 1, p. 1, doi. 10.1007/s10143-023-01950-4

By:

Deng, Hao;
Xiong, Bo-tao;
Wu, Yang;
Wang, Wei

Publication type:

Article

A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report.

Published in:

Bulletin of the National Research Centre, 2024, v. 48, n. 1, p. 1, doi. 10.1186/s42269-024-01259-2

By:

Jodorkovsky, Roberto;
Trivedi, Saloni;
Rana, Asama;
Thomae, Mitchell

Publication type:

Article

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series.

Published in:

2024

By:

Fang, Hung-Hsiang;
Lee, Chung-Lin;
Chen, Hui-Ju;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Case Study

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

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2022.1044936

By:

AlBakheet, Albandary;
AlQudairy, Hanan;
Alkhalifah, Joud;
Almoaily, Sheikhah;
Kaya, Namik;
Rahbeeni, Zuhair

Publication type:

Article

Lesch-Nyhan sendromu ve kendi oral dokularına zarar verme davranışı: Bir olgu sunumu.

Published in:

Gulhane Medical Journal, 2014, v. 56, n. 4, p. 251, doi. 10.5455/gulhane.19492

By:

YILDIRIM, Ceren;
AKGÜN, Özlem Martı;
GÖRGÜLÜ, Serkan;
BAŞAK, Feridun

Publication type:

Article

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Published in:

Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1335, doi. 10.1007/s11011-019-00441-0

By:

Cho, Ja Hyang;
Choi, Jin-Ho;
Heo, Sun Hee;
Kim, Gu-Hwan;
Yum, Mi-Sun;
Lee, Beom Hee;
Yoo, Han-Wook

Publication type:

Article

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

Lesch-Nyhan syndrome: A case report.

Published in:

2008

By:

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

Publication type:

Case Study

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

Symptomatic management and new therapeutic directions in Lesch‑Nyhan syndrome (Review).

Published in:

World Academy of Sciences Journal, 2025, v. 7, n. 3, p. N.PAG, doi. 10.3892/wasj.2025.331

By:

Valechha, Drishti;
Jyotishi, Charmi;
Patel, Mansi;
Gupta, Reeshu

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

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 an Indian Child.

Published in:

Indian Journal of Dermatology, 2015, v. 60, n. 3, p. 298, doi. 10.4103/0019-5154.156392

By:

Chandekar, Priyanka;
Madke, Bhushan;
Kar, Sumit;
Yadav, Nidhi

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: Evaluation of a Modified Bite Device to Prevent Bite Injuries.

Published in:

Applied Sciences (2076-3417), 2020, v. 10, n. 11, p. 3808, doi. 10.3390/app10113808

By:

Ierardo, Gaetano;
Luzzi, Valeria;
Sfasciotti, Gian Luca;
Polimeni, Antonella;
Bossù, Maurizio

Publication type:

Article

Lesch-Nyhan syndrome: A treatment planning dilemma.

Published in:

Clinical Dentistry (0974-3979), 2022, v. 16, n. 1, p. 18, doi. 10.33882/ClinicalDent.15.30268

By:

Ram, Avaneeth

Publication type:

Article

Dystonia in Handcuffs: A Picture Typical of Lesch‐Nyhan Syndrome.

Published in:

Movement Disorders Clinical Practice, 2019, v. 6, n. 7, p. 612, doi. 10.1002/mdc3.12776

By:

Menozzi, Elisa;
Latorre, Anna;
Balint, Bettina;
Bhatia, Kailash P.

Publication type:

Article

A CURIOUS CASE OF LESCH-NYHAN SYNDROME.

Published in:

i-Manager's Journal on Nursing, 2021, v. 11, n. 1, p. 34, doi. 10.26634/jnur.11.1.17578

By:

SIVASANKER, AMRITA A.

Publication type:

Article

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.

Published in:

Pediatric Nephrology, 2019, v. 34, n. 3, p. 425, doi. 10.1007/s00467-018-4037-9

By:

Ng, Natasha;
Kaur, Amrit;
Shenoy, Mohan

Publication type:

Article

Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions.

Published in:

2019

By:

Ng, Natasha;
Kaur, Amrit;
Shenoy, Mohan

Publication type:

Case Study

Germline mosaicism complicates molecular diagnosis of Lesch-Nyhan syndrome.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 9, p. 737, doi. 10.1002/pd.959

By:

Willers, Ingrid

Publication type:

Article

Lesch-Nyhan syndrome: Carrier and prenatal diagnosis.

Published in:

Prenatal Diagnosis, 1995, v. 15, n. 4, p. 329, doi. 10.1002/pd.1970150406

By:

Alford, R. L.;
Redman, J. B.;
O'brien, W. E.;
Caskey, C. T.

Publication type:

Article

COGNITIVE FUNCTIONING IN LESCH-NYHAN SYNDROME.

Published in:

Developmental Medicine & Child Neurology, 1995, v. 37, n. 8, p. 715, doi. 10.1111/j.1469-8749.1995.tb15017.x

By:

Matthews, Wendy S.;
Solan, Anita;
Barabas, Gabor

Publication type:

Article

HPRT-APRT-deficient Mice Are Not a Model for Lesch-Nyhan Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1607, doi. 10.1093/hmg/5.10.1607

By:

Engle, Sandra J.;
Womer, Daniel E.;
Davies, Philip M.;
Boivin, Greg;
Sahota, Amrik;
Simmonds, H. Anne;
Stambrook, Peter J.;
Tischfield, Jay A.

Publication type:

Article

A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.

Published in:

Nature, 1987, v. 326, n. 6110, p. 295, doi. 10.1038/326295a0

By:

Kuehn, Michael R.;
Bradley, Allan;
Robertson, Elizabeth J.;
Evans, Martin J.

Publication type:

Article