Works matching Lesch-Nyhan syndrome
Results: 339
Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis.
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- 2007
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- Publication type:
- Report
Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1266, doi. 10.1080/15257770.2011.608396
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- Article
A Preventive Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report.
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- Pediatric Dentistry, 2006, v. 28, n. 4, p. 341
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- Article
New personalized genetic mouse model of Lesch- Nyhan syndrome for pharmacology and gene therapy.
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- Research Results in Pharmacology, 2018, v. 4, n. 4, p. 115, doi. 10.3897/rrpharmacology.4.32209
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- Article
Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.
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- Pediatric Nephrology, 2006, v. 21, n. 7, p. 1045, doi. 10.1007/s00467-006-0149-8
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- Article
Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
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- 2006
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- Publication type:
- journal article
Self-mutilation behaviour in Lesch–Nyhan syndrome.
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- Journal of Oral Pathology & Medicine, 2005, v. 34, n. 9, p. 573, doi. 10.1111/j.1600-0714.2005.00330.x
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- Article
An unanticipated difficult airway in Lesch--Nyhan syndrome.
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- 2012
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- Case Study
Lesch–Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
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- Nucleosides, Nucleotides & Nucleic Acids, 2015, v. 34, n. 6, p. 442, doi. 10.1080/15257770.2015.1014492
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- Article
Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members.
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- Nucleosides, Nucleotides & Nucleic Acids, 2012, v. 31, n. 8, p. 616, doi. 10.1080/15257770.2012.714028
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- Article
Disruption of the Hypoxanthine-Guanine Phosphoribosyl-Transferase Gene Caused by a Translocation in a Patient with Lesch-Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1173, doi. 10.1081/NCN-200027441
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- Article
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
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- 2011
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- Publication type:
- Report
METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.
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- Journal of Advanced Scientific Research, 2020, v. 11, p. 31
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- Article
METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.
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- Journal of Advanced Scientific Research, 2020, v. 11, p. 31
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- Article
Lesch-Nyhan syndrome: A case report.
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- 2008
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- Publication type:
- Case Study
Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.
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- Metabolic Brain Disease, 2012, v. 27, n. 2, p. 193, doi. 10.1007/s11011-012-9279-9
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- Article
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.
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- Indian Journal of Psychological Medicine, 2016, v. 38, n. 5, p. 477, doi. 10.4103/0253-7176.191389
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- Article
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 8, p. 426, doi. 10.1080/15257770.2015.1098660
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- Article
Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2015, v. 34, n. 10, p. 674, doi. 10.1080/15257770.2015.1071844
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- 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.
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- Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1077, doi. 10.1080/15257770600893974
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- Article
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
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- Clinical Laboratory, 2018, v. 64, p. 197, doi. 10.7754/Clin.Lab.2017.170813
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- Article
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
- Published in:
- 2018
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- 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.
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- Dental Traumatology, 2010, v. 26, n. 6, p. 496, doi. 10.1111/j.1600-9657.2010.00930.x
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- Publication type:
- Article
Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome.
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- Pediatric Nephrology, 2005, v. 20, n. 7, p. 1019, doi. 10.1007/s00467-005-1837-5
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- Publication type:
- Article
Botulinum toxin as a novel treatment for self-mutilation in Lesch–Nyhan syndrome.
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- Developmental Medicine & Child Neurology, 2005, v. 47, n. 9, p. 636, doi. 10.1017/S0012162205001246
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- Article
LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.
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- 2014
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- Publication type:
- Case Study
Lesch–Nyhan syndrome: a preventive approach to self-mutilation.
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- International Journal of Paediatric Dentistry, 2003, v. 13, n. 1, p. 51, doi. 10.1046/j.1365-263X.2003.00412.x
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- 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.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.304
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- Article
Clinical utility gene card for: Lesch-Nyhan syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.109
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- Publication type:
- Article
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
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- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 48, doi. 10.1186/1750-1172-2-48
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- Article
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.
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- Clinical & Experimental Immunology, 1978, v. 31, n. 2, p. 205
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- Article
Posterior column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan syndrome (LNS): a case report Scientific correspondence Scientific correspondence.
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- Neuropathology & Applied Neurobiology, 2010, v. 36, n. 7, p. 680, doi. 10.1111/j.1365-2990.2010.01125.x
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- Article
Pallidal Deep-Brain Stimulation Associated With Complete Remission of Self-injurious Behaviors in a Patient With Lesch-Nyhan Syndrome: A Case Report.
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- 2012
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- Publication type:
- Case Study
Hypoxanthine Effect on Equilibrative and Concentrative Adenosine Transport in Human Lymphocytes. Implications in the Phatogenesis of Lesch-Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1065, doi. 10.1080/15257770600890988
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- Article
Lesch-Nyhan syndrome in two brothers: Why early diagnosis is essential.
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- Clinical Pediatrics, 1994, v. 33, n. 2, p. 125, doi. 10.1177/000992289403300214
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- Article
Restraint fading and alternate management strategies to treat a man with Lesch–Nyhan syndrome over a 2 year period.
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- 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
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- 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.
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- Molecular Human Reproduction, 1998, v. 4, n. 8, doi. 10.1093/molehr/4.8.785
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- Article
Effects of Hypoxanthine on Adenosine Transport in Human Lymphocytes. Implications in the Phatogenesis of Lesch–Nyhan Syndrome.
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- Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1177, doi. 10.1081/NCN-200027444
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- Publication type:
- Article
HPRT1 基因变异致 Lesch-Nyhan 综合征的产前诊断及遗传咨询.
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- Journal of International Obstetrics & Gynecology, 2022, v. 49, n. 3, p. 345, doi. 10.12280/gjfckx.20210903
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- Publication type:
- Article
Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 408, doi. 10.1186/s13023-014-0208-3
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- Publication type:
- Article
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.
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- Maedica - a Journal of Clinical Medicine, 2023, v. 18, n. 2, p. 348, doi. 10.26574/maedica.2023.18.2.348
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- Article
Differential diagnosis in patients with osahs and concomitant genetic syndromes: a case of lesch-nyhan syndrome.
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- 2022
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- Publication type:
- Case Study
Cerebral Venous Sinus Thrombosis in a Child with Lesch-Nyhan Syndrome.
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- 2021
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- Publication type:
- Case Study
Lesch–Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports.
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- International Journal of Clinical Pediatric Dentistry, 2024, v. 17, n. 12, p. 1431, doi. 10.5005/jp-journals-10005-2990
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- Publication type:
- Article
Xanthine Calculi in the Patient with the Lesch-Nyhan Syndrome Associated with Urinary Tract Infection.
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- Urologia Internationalis, 1985, v. 40, n. 3, p. 138, doi. 10.1159/000281067
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- Publication type:
- Article
Removable Appliance for Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report.
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- Journal of Dental School, Shahid Beheshti University of Medical Sciences, 2020, v. 38, n. 2, p. 90, doi. 10.22037/jds.v38i2.31743
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- Article
Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: HPRT1 Mutations in New Japanese Families and PRPP Concentration.
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- Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 218, doi. 10.1080/15257770.2013.865743
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- Article
Identification of Novel Mutations in the Human HPRT Gene.
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- Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 3, p. 155, doi. 10.1080/15257770.2012.742200
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- Article
Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population.
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- Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1248, doi. 10.1080/15257770.2011.603714
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- Article