Results 11 to 20 of about 4,477 (107)

Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease [PDF]

, 2016
Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides.
AM Geurts, C Tong, CL Wu, D Pelled, DJ Creek, DJ Williamson, E Zoref-Shani, GD Zheng, GH Guibinga, GH Guibinga, GR Breese, HA Jinnah, HA Jinnah, HA Jinnah, HA Simmonds, K Blair, KG Lloyd, M Buehr, M Hooper, M Lesch, M Mazzali, MA Cenci, MG Garcia, MK Dienhart, MR Kuehn, P Li, QL Ying, RJ Torres, S Brosh, S Finger, S Meek, S Meek, S Wolf, SB Dunnett, SL Meddle, SM Downs, SM Downs, TJ Aitman, TP Yang, TP Zwaka, WJ Tax, WL Nyhan, WL Nyhan, X Zheng, Y Chen, Y Yu   +45 more
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HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease [PDF]

, 2006
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency always causing hyperuricemia presents various degrees of neurological manifestations, the most severe which is Lesch–Nyhan syndrome.
Carcassi, Aldo, Carcassi, Carlo, Contu, Licinio, Corradi, Maria Rita, Cossu, Antonello, Jacomelli, Gabriella, Micheli, Vanna, Orrù, Sandro, Pompucci, Giuseppe, Sestini, Silvia   +9 more
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Self‐injurious behaviour: limbic dysregulation and stress effects in an animal model [PDF]

, 2012
Background  Self‐injurious behaviour (SIB) is prevalent in neurodevelopmental disorders, but its expression is highly variable within, and between diagnostic categories. This raises questions about the factors that contribute to aetiology and expression
Accardo, Anderson, Breese, Covington, Davenport, Ernst, Favell, Fuller, Gaspar, Gilbert, Gonzalez-Lima, Graybiel, Green, Hatefi, Huhman, Kemp, Kies, Konkle, Le Moine, Lesch, Lindauer, Lloyd, Marcinkiewcz, Martinez, Martinez, Matson, McCracken, Miczek, Muehlmann, Muehlmann, National Research Council, Novak, Paxinos, Rojahn, Ruedrich, Sandman, Sandman, Schretlen, Shapira, Sovner, Stodgell, Symons, Symons, Symons, Verhoeven, Wong-Riley   +45 more
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Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation [PDF]

, 2023
Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, reported by their ratio to ...
Bjerre, Anna Kristina, Bliksrud, Yngve Thomas, Brun, Atle, Flemmen, Per Tryggve Kjelland, Mørkrid, Lars, Salvador, Cathrin Lytomt, Tsui, Ellen Fun Fong, Tøndel, Camilla   +7 more
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Lesch-Nyhan syndrome: evaluation of a modified bite device to prevent bite injuries [PDF]

, 2020
Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purinemetabolismdisorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Bossu M., Ierardo G., Luzzi V., Polimeni A., Sfasciotti G. L.   +4 more
core   +1 more source

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome [PDF]

, 2007
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic
A Edwards, B Aral, B Aral, B Bakay, BL Davidson, C Prior, C Rinat, C Rinat, CS Bavaresco, CS Pinto, CS Pinto, D Hoefnagel, D Pelled, DF Wong, DJ Jolly, DJ Schretlen, DW Smith, E Dabrowski, E Pralong, E Zoref-Shani, FM Rosenbloom, FS Silverstein, GR Breese, GW Graham, H Criswell, HA Jinnah, HA Jinnah, HA Jinnah, HA Jinnah, HA Jinnah, HJ Rylance, J García Puig, J Jankovic, J McManaman, JC Crawhall, JC Harris, JE Seegmiller, JE Visser, JG Puig, JG Puig, JM Kaufman, JM Wilson, JP O'Neill, Juan G Puig, K Hara, KG LLoyd, L De Gregorio, L De Gregorio, L De Gregorio, L De Gregorio, L Olson, L Olson, LT Anderson, LT Anderson, M Bertelli, M Ernst, M Hakoda, M Lesch, MA Becker, N Ogasawara, P van Bogaert, R Christie, RA Gibbs, RJ Torres, RJ Torres, RJ Torres, RJ Torres, RO McKeran, RO McKeran, Rosa J Torres, RW Rundles, RW Watts, SJ Engle, SP van der Zee, SR Schroeder, T Page, T Taira, T Yukawa, TL Shirley, VK Neychev, W Catel, WA Brock, WL Nyhan, WL Nyhan, WN Kelley, WN Kelley, WN Kelley, WS Matthews   +87 more
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Developmental profile and diagnoses in children presenting with motor stereotypies [PDF]

, 2016
Introduction: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders (“primary stereotypies”, associated with Autistic Spectrum ...
Baglioni, Valentina, Cardona, Francesco Carmelo Giovanni, D'Ardia, Caterina, Flavia, Chiarotti, Miraglia, Daniela, Valente, Francesca   +5 more
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Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease [PDF]

, 2020
Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction.
Fu, Rong, Jinnah, H. A., López Blanco, José Manuel, Outtrim, Esther L., Sutcliffe, Diane J., Torres, Rosa J., Universitat Autònoma de Barcelona. Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular   +6 more
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Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus derived cDNA expression vector. [PDF]

, 1991
Human cells are, in general, poor recipients of foreign DNA, which has severely hampered the cloning of genes by direct phenotypic correction of deficient human cell lines after DNA mediated gene transfer. In this communication a methodology is presented
Backendorf, C.M.P. (Claude), Belt, P.B.G.M., Hoeijmakers, J.H.J. (Jan), Jongmans, W., Putte, P. (Pieter) van de, Wit, J. (Jan) de   +5 more
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A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients [PDF]

, 2014
Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme ...
Alessia Delucchi, Enrico Calcagno, Giulia Ragazzini, Gloria Denotti, Roberto Servetto   +4 more
core   +3 more sources