Works matching DE "LESCH-Nyhan syndrome"
Results: 186
Hyperuricemia Mgmt.
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- 2009
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- Letter
Effects of xapA and guaA Disruption on Inosine Accumulation in Escherichia coli.
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- Bioscience, Biotechnology & Biochemistry, 2006, v. 70, n. 12, p. 3069, doi. 10.1271/bbb.60398
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- Article
Investigation of toxicity and mutagenicity of cold atmospheric argon plasma.
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- Environmental & Molecular Mutagenesis, 2017, v. 58, n. 3, p. 172, doi. 10.1002/em.22086
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- Article
Evaluation of Frequencies of HPRT Mutant Lymphocytes in Butadiene Polymer Workers in a Southeast Texas Facility.
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- Environmental & Molecular Mutagenesis, 2009, v. 50, n. 2, p. 82, doi. 10.1002/em.20437
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- Article
Effect of Chronic Azathioprine Treatment on Germ-Line Transmission of Hprt Mutation in Mice.
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- Environmental & Molecular Mutagenesis, 2007, v. 48, n. 9, p. 744, doi. 10.1002/em.20352
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- Article
Comment on: Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 3, p. 463, doi. 10.1002/mdc3.12440
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- Article
Literature reviews: Genetics.
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- Clinical Pediatrics, 1996, v. 35, n. 12, p. 665
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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
The human β-amyloid precursor protein: biomolecular and epigenetic aspects.
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- Biomolecular Concepts, 2015, v. 6, n. 1, p. 11, doi. 10.1515/bmc-2014-0041
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- Article
A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients.
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- International Journal of Dentistry, 2014, p. 1, doi. 10.1155/2014/396830
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- Article
Purification and Characterization of Hypoxanthine/Guanine Phosphoribosyltransferase in Bovine Snout Epidermis.
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- Journal of Investigative Dermatology, 1980, v. 75, n. 3, p. 240, doi. 10.1111/1523-1747.ep12523252
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- Article
Involvement of APOBEC3B in mutation induction by irradiation.
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- Journal of Radiation Research, 2020, v. 61, n. 6, p. 819, doi. 10.1093/jrr/rraa069
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- Article
Using rodents for modeling Self-Injurious Behaviour.
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- Annals of General Psychiatry, 2008, v. 7, p. 1, doi. 10.1186/1744-859X-7-S1-S290
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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
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
Non-detectable levels of 6-thioguanine nucleotides and 6-methylmercaptopurine in a patient treated with azathioprine: a case report.
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- British Journal of Clinical Pharmacology, 2007, v. 63, n. 4, p. 508, doi. 10.1111/j.1365-2125.2007.02886_10.x
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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
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
The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.
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- Case Reports in Neurology, 2019, v. 11, n. 3, p. 256, doi. 10.1159/000502568
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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
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.
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- Endocytobiosis & Cell Research, 2013, v. 24, p. 1
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- Article
GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease.
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- International Journal of Rheumatic Diseases, 2018, v. 21, n. 6, p. 1270, doi. 10.1111/1756-185X.13323
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- Article
Functional Organization of a Schwann Cell Enhancer.
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- Journal of Neuroscience, 2005, v. 25, n. 48, p. 11210, doi. 10.1523/JNEUROSCI.2596-05.2005
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- Article
Sudden death in Lesch-Nyhan disease.
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- Developmental Medicine & Child Neurology, 2006, v. 48, n. 11, p. 923, doi. 10.1017/S0012162206002015
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- Article
Behavioral aspects of Lesch–Nyhan disease and its variants.
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- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 673, doi. 10.1017/S0012162205001374
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- 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
Influence of Age and Strain on Striatal Dopamine Loss in a Genetic MouseModel of Lesch-Nyhan Disease.
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- Journal of Neurochemistry, 1999, v. 72, n. 1, p. 225, doi. 10.1046/j.1471-4159.1999.0720225.x
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- Article
Crystal structure of Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyl transferase L160I mutant − insights into inhibitor design.
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- FEBS Journal, 2007, v. 274, n. 17, p. 4408, doi. 10.1111/j.1742-4658.2007.05970.x
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- Article
Structure of a natural guanine-responsive riboswitch complexed with the metabolite hypoxanthine.
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- Nature, 2004, v. 432, n. 7015, p. 411, doi. 10.1038/nature03037
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- Article
Aicar effect in early neuronal development.
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- Nucleosides, Nucleotides & Nucleic Acids, 2018, v. 37, n. 5, p. 261, doi. 10.1080/15257770.2018.1453073
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- Article
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 11, p. 704, doi. 10.1080/15257770.2017.1395037
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- Article
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
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- Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 7, p. 452, doi. 10.1080/15257770.2017.1315434
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- Article
Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
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- Nucleosides, Nucleotides & Nucleic Acids, 2017, v. 36, n. 2, p. 151, doi. 10.1080/15257770.2016.1231319
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- Article
Novel mutation in HPRT1 causing a splicing error with multiple variations.
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- 2017
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- Case Study
Development of new forms of self-injurious behavior following total dental extraction in Lesch–Nyhan disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 10-12, p. 524, doi. 10.1080/15257770.2016.1184276
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- Article
A review of the implication of hypoxanthine excess in the physiopathology of Lesch–Nyhan disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2016, v. 35, n. 10-12, p. 507, doi. 10.1080/15257770.2016.1147579
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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
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
Transcriptomic Approach to Lesch-Nyhan Disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 208, doi. 10.1080/15257770.2014.880477
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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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Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism.
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- Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 233, doi. 10.1080/15257770.2013.854381
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- Article
HPRT Deficiency in Spain: What Have We Learned in the Past 30 Years (1984–2013)?
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- Nucleosides, Nucleotides & Nucleic Acids, 2014, v. 33, n. 4-6, p. 223, doi. 10.1080/15257770.2013.853784
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- Article
Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease.
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- Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 4, p. 189, doi. 10.1080/15257770.2013.774013
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- Article
Quantitative Evaluation of the Clinical Effects of S -Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients.
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- Nucleosides, Nucleotides & Nucleic Acids, 2013, v. 32, n. 4, p. 174, doi. 10.1080/15257770.2013.774012
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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
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
Simultaneous Determination of Purine and Pyrimidine Metabolites in Hprt-Deficient Cell Lines.
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- Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1256, doi. 10.1080/15257770.2011.616565
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- Article
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
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