Works matching DE "LESCH-Nyhan syndrome"
Results: 185
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
Identification of Suitable Housekeeping Genes for Quantitative Gene Expression Analysis During Retinoic Acid-induced Differentiation of Embryonal Carcinoma NCCIT Cells.
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- Journal of Cell & Molecular Research, 2020, v. 12, n. 2, p. 104, doi. 10.22067/jcmr.v12i2.88457
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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
Oral self-injury. An update.
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- Dental Traumatology, 2013, v. 29, n. 1, p. 8, doi. 10.1111/j.1600-9657.2012.01121.x
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- 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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- Article
Molecular and functional analysis of hypoxanthine-guanine phosphoribosyltransferase from Arabidopsis thaliana.
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- New Phytologist, 2007, v. 175, n. 3, p. 448, doi. 10.1111/j.1469-8137.2007.02117.x
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- Article
Nephrolithiasis related to inborn metabolic diseases.
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- Pediatric Nephrology, 2010, v. 25, n. 3, p. 415, doi. 10.1007/s00467-008-1085-6
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- Article
Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis.
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- 2007
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- Publication type:
- Report
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
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
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- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1346, doi. 10.1007/s00467-005-1935-4
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- 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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- 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
Identification of mouse mutant cells exhibiting plastic mutant phenotype II; Ionizing radiation-induced mutant phenotype plasticity is not dependent on DNA methylation of the hypoxanthine phosphoribosyl transferase gene in mouse FM3A cells.
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- BioScience Trends, 2010, v. 4, n. 6, p. 312
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- Article
Identification of mouse mutant cells exhibiting the plastic mutant phenotype.
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- BioScience Trends, 2010, v. 4, n. 4, p. 195
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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
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
The 2.0 Å structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.
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- Nature Structural Biology, 1999, v. 6, n. 6, p. 588
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- Article
Nucleotide Salvage Deficiencies, DNA Damage and Neurodegeneration.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 9431, doi. 10.3390/ijms16059431
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- Article
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
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- 2018
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- Publication type:
- journal 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
The benchmark dose estimation of reference levels of serum urate for gout.
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- Clinical Rheumatology, 2018, v. 37, n. 10, p. 2887, doi. 10.1007/s10067-018-4273-1
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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
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
LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.
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- 2014
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- Case Study
Differential expression of glyceraldehyde-3-phosphate dehydrogenase (GAPDH), β actin and hypoxanthine phosphoribosyltransferase (HPRT) in postnatal rabbit sclera.
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- Current Eye Research, 2001, v. 23, n. 1, p. 44, doi. 10.1076/ceyr.23.1.44.5420
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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
METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.
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- Journal of Advanced Scientific Research, 2020, v. 11, p. 31
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- Article
Untitled.
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- BioScience, 1969, v. 19, n. 8, p. 740
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- Article
Untitled.
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- BioScience, 1969, v. 19, n. 8, p. 740
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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
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
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0219-0
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- Article
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 39, doi. 10.1186/s13023-014-0219-0
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- 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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- 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
Hematological parameters in adolescents with hyperuricemia.
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- Indian Pediatrics, 2014, v. 51, n. 12, p. 1003, doi. 10.1007/s13312-014-0547-0
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- Article
"Orange sand" in the diaper of a toddler who does not toddle.
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- Contemporary Pediatrics, 2003, v. 20, n. 5, p. 27
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- Article
Specificities and pH profiles of adenine and hypoxanthine-guanine-xanthine phosphoribosyltransferases (nucleotide synthases) of the thermoacidophile archaeon Sulfolobus solfataricus.
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- Extremophiles, 2014, v. 18, n. 1, p. 179, doi. 10.1007/s00792-013-0595-8
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- Article
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
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- 2008
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- Publication type:
- journal article
Research on genes: promises and limitations.
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- Journal of Psychiatry & Neuroscience, 1999, v. 24, n. 4, p. 300
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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
Association between hyperuricemia and atrial fibrillation in rural China: a cross-sectional study.
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- BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12872-015-0089-y
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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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- Publication type:
- Article
Lesch-Nyhan syndrome: A case report.
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- 2008
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- Publication type:
- Case Study
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
Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation.
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- Mammalian Genome, 2011, v. 22, n. 11/12, p. 635, doi. 10.1007/s00335-011-9351-5
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- Article
A triple-helix forming oligonucleotide targeting genomic DNA fails to induce mutation.
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- Mutagenesis, 2012, v. 27, n. 6, p. 713, doi. 10.1093/mutage/ges037
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- Article
Uranyl acetate induces hprt mutations and uranium–DNA adducts in Chinese hamster ovary EM9 cells.
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- Mutagenesis, 2005, v. 20, n. 6, p. 417, doi. 10.1093/mutage/gei056
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- Article