Works matching DE "LESCH-Nyhan syndrome"
Results: 185
Effects of xapA and guaA Disruption on Inosine Accumulation in Escherichia coli.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2006, v. 70, n. 12, p. 3069, doi. 10.1271/bbb.60398
- By:
- Publication type:
- Article
The benchmark dose estimation of reference levels of serum urate for gout.
- Published in:
- Clinical Rheumatology, 2018, v. 37, n. 10, p. 2887, doi. 10.1007/s10067-018-4273-1
- By:
- Publication type:
- Article
LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Introductory remarks: long-term follow-up of behavioral interventions for challenging behaviors in persons with developmental disabilities.
- Published in:
- Behavioral Interventions, 1997, v. 12, n. 4, p. 157, doi. 10.1002/(SICI)1099-078X(199710)12:4<157::AID-BRT174>3.0.CO;2-P
- By:
- 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:
- Publication type:
- Article
A point mutation at the subunit interface of hypoxanthine–guanine–xanthine phosphoribosyltransferase impairs activity: role of oligomerization in catalysis
- Published in:
- FEBS Letters, 2002, v. 521, n. 1-3, p. 72, doi. 10.1016/S0014-5793(02)02826-0
- By:
- Publication type:
- Article
research paper Frequent HPRT mutations in paroxysmal nocturnal haemoglobinuria reflect T cell clonal expansion, not genomic instability.
- Published in:
- British Journal of Haematology, 2004, v. 125, n. 3, p. 383, doi. 10.1111/j.1365-2141.2004.04912.x
- By:
- Publication type:
- Article
Needles in haystacks: the challenges of rare diseases.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 1, p. 6, doi. 10.1111/j.1469-8749.2010.03791.x
- By:
- Publication type:
- Article
A population study of Lesch-Nyhan disease in the UK.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 1, p. 34, doi. 10.1111/j.1469-8749.2010.03786.x
- By:
- Publication type:
- Article
Sudden death in Lesch-Nyhan disease.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 11, p. 923, doi. 10.1017/S0012162206002015
- By:
- Publication type:
- Article
Behavioral aspects of Lesch–Nyhan disease and its variants.
- Published in:
- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 673, doi. 10.1017/S0012162205001374
- By:
- 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:
- Publication type:
- Article
The 2.0 Å structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.
- Published in:
- Nature Structural Biology, 1999, v. 6, n. 6, p. 588
- By:
- Publication type:
- Article
Altered membrane NTPase activity in Lesch–Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
- Published in:
- Journal of Neurochemistry, 2005, v. 93, n. 6, p. 1579, doi. 10.1111/j.1471-4159.2005.03151.x
- By:
- Publication type:
- Article
Influence of Age and Strain on Striatal Dopamine Loss in a Genetic MouseModel of Lesch-Nyhan Disease.
- Published in:
- Journal of Neurochemistry, 1999, v. 72, n. 1, p. 225, doi. 10.1046/j.1471-4159.1999.0720225.x
- By:
- Publication type:
- Article
Hematological parameters in adolescents with hyperuricemia.
- Published in:
- Indian Pediatrics, 2014, v. 51, n. 12, p. 1003, doi. 10.1007/s13312-014-0547-0
- By:
- Publication type:
- Article
Lesch-Nyhan syndrome: A case report.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
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:
- Publication type:
- Article
Investigation of toxicity and mutagenicity of cold atmospheric argon plasma.
- Published in:
- Environmental & Molecular Mutagenesis, 2017, v. 58, n. 3, p. 172, doi. 10.1002/em.22086
- By:
- Publication type:
- Article
Evaluation of Frequencies of HPRT Mutant Lymphocytes in Butadiene Polymer Workers in a Southeast Texas Facility.
- Published in:
- Environmental & Molecular Mutagenesis, 2009, v. 50, n. 2, p. 82, doi. 10.1002/em.20437
- By:
- Publication type:
- Article
Effect of Chronic Azathioprine Treatment on Germ-Line Transmission of Hprt Mutation in Mice.
- Published in:
- Environmental & Molecular Mutagenesis, 2007, v. 48, n. 9, p. 744, doi. 10.1002/em.20352
- By:
- Publication type:
- Article
Mutagenicity and loss of heterozygosity at the APRT locus in human lymphoblastoid cells exposed to 3′-azido-3′-deoxythymidine.
- Published in:
- Mutagenesis, 2000, v. 15, n. 5, p. 405, doi. 10.1093/mutage/15.5.405
- By:
- Publication type:
- Article
Molecular analysis of styrene oxide-induced hprt mutation in human T-lymphocytes.
- Published in:
- Mutagenesis, 1996, v. 11, n. 6, p. 581, doi. 10.1093/mutage/11.6.581
- By:
- Publication type:
- Article
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 71, doi. 10.1007/s00439-010-0901-9
- By:
- Publication type:
- Article
Molecular and functional analysis of hypoxanthine-guanine phosphoribosyltransferase from Arabidopsis thaliana.
- Published in:
- New Phytologist, 2007, v. 175, n. 3, p. 448, doi. 10.1111/j.1469-8137.2007.02117.x
- By:
- Publication type:
- Article
Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report.
- Published in:
- 2011
- Publication type:
- Abstract
Reticulated pigmentary changes in a patient with a variant form of Lesch-Nyhan disease.
- Published in:
- Clinical & Experimental Dermatology, 2012, v. 37, n. 5, p. 569, doi. 10.1111/j.1365-2230.2011.04271.x
- By:
- Publication type:
- Article
Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase: Intermediate Enzyme Deficiency in Heterozygote Red Cells.
- Published in:
- Annals of Internal Medicine, 1972, v. 76, n. 2, p. 285, doi. 10.7326/0003-4819-76-2-285
- By:
- Publication type:
- Article
Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population.
- Published in:
- Annals of Internal Medicine, 1972, v. 76, n. 2, p. 255, doi. 10.7326/0003-4819-76-2-255
- By:
- Publication type:
- Article
Research on genes: promises and limitations.
- Published in:
- Journal of Psychiatry & Neuroscience, 1999, v. 24, n. 4, p. 300
- By:
- Publication type:
- Article
Correlation between Serum Uric Acid Level and Microalbuminuria in Type-2 Diabetic Nephropathy.
- Published in:
- Pakistan Journal of Medical Sciences, 2017, v. 33, n. 6, p. 1371, doi. 10.12669/pjms.336.13224
- By:
- Publication type:
- Article
Plasmodium-Induced Inflammation by Uric Acid.
- Published in:
- PLoS Pathogens, 2008, v. 4, n. 3, p. 1, doi. 10.1371/journal.ppat.1000013
- By:
- Publication type:
- Article
Hyperuricemia Mgmt.
- Published in:
- 2009
- By:
- Publication type:
- Letter
METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.
- Published in:
- Journal of Advanced Scientific Research, 2020, v. 11, p. 31
- By:
- Publication type:
- Article
METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.
- Published in:
- Journal of Advanced Scientific Research, 2020, v. 11, p. 31
- By:
- Publication type:
- Article
A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients.
- Published in:
- International Journal of Dentistry, 2014, p. 1, doi. 10.1155/2014/396830
- By:
- Publication type:
- Article
Diagnosis difficulties in extrapyramidal syndrome in young children.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 426
- By:
- Publication type:
- Article
DIFICULTĂŢI DE DIAGNOSTIC ÎN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 422
- By:
- Publication type:
- Article
Involvement of APOBEC3B in mutation induction by irradiation.
- Published in:
- Journal of Radiation Research, 2020, v. 61, n. 6, p. 819, doi. 10.1093/jrr/rraa069
- By:
- Publication type:
- Article
Identification of Suitable Housekeeping Genes for Quantitative Gene Expression Analysis During Retinoic Acid-induced Differentiation of Embryonal Carcinoma NCCIT Cells.
- Published in:
- Journal of Cell & Molecular Research, 2020, v. 12, n. 2, p. 104, doi. 10.22067/jcmr.v12i2.88457
- By:
- Publication type:
- Article
Non-detectable levels of 6-thioguanine nucleotides and 6-methylmercaptopurine in a patient treated with azathioprine: a case report.
- Published in:
- British Journal of Clinical Pharmacology, 2007, v. 63, n. 4, p. 508, doi. 10.1111/j.1365-2125.2007.02886_10.x
- By:
- Publication type:
- Article
The human β-amyloid precursor protein: biomolecular and epigenetic aspects.
- Published in:
- Biomolecular Concepts, 2015, v. 6, n. 1, p. 11, doi. 10.1515/bmc-2014-0041
- By:
- 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:
- Publication type:
- Article
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.
- Published in:
- Journal of Neurochemistry, 2013, v. 127, n. 6, p. 805, doi. 10.1111/jnc.12366
- By:
- Publication type:
- Article
A human neuronal tissue culture model for Lesch-Nyhan disease.
- Published in:
- Journal of Neurochemistry, 2007, v. 101, n. 3, p. 841, doi. 10.1111/j.1471-4159.2007.04472.x
- By:
- Publication type:
- Article
Panniculitis: another clinical expression of gout.
- Published in:
- Rheumatology International, 2011, v. 31, n. 6, p. 831, doi. 10.1007/s00296-010-1561-8
- By:
- Publication type:
- Article
Oral self-injury. An update.
- Published in:
- Dental Traumatology, 2013, v. 29, n. 1, p. 8, doi. 10.1111/j.1600-9657.2012.01121.x
- By:
- Publication type:
- Article
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:
- Publication type:
- Article
Induction and characterization of hypoxanthine-phosphoribosyltransferase (Hprt[sup –] ) deficient cell lines of Akodon cursor (Rodentia, Sigmodontinae).
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 92, n. 1/2, p. 153, doi. 10.1159/000056888
- By:
- Publication type:
- Article
Self-Injury in Lesch-Nyhan Disease.
- Published in:
- Journal of Autism & Developmental Disorders, 1994, v. 24, n. 1, p. 67, doi. 10.1007/BF02172213
- By:
- Publication type:
- Article