Results 51 to 60 of about 8,820 (262)

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
core   +3 more sources

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer

AIMS Neuroscience, 2021
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective.
Khue Vu Nguyen
doaj   +1 more source

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
core   +1 more source

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
core   +1 more source

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić   +3 more
doaj   +1 more source

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
core   +1 more source

Syndrome decoding by quantum approximate optimization [PDF]

Quantum Inf Process 23, 368 (2024), 2022
The syndrome decoding problem is known to be NP-complete. The goal of the decoder is to find an error of low weight that corresponds to a given syndrome obtained from a parity-check matrix. We use the quantum approximate optimization algorithm (QAOA) to address the syndrome decoding problem with elegantly-designed reward Hamiltonians based on both ...
arxiv   +1 more source

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Indian Journal of Paediatric Dermatology, 2022
Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source

Adaptive syndrome measurements for Shor-style error correction [PDF]

Quantum 7, 1075 (2023), 2022
The Shor fault-tolerant error correction (FTEC) scheme uses transversal gates and ancilla qubits prepared in the cat state in syndrome extraction circuits to prevent propagation of errors caused by gate faults. For a stabilizer code of distance $d$ that can correct up to $t=\lfloor(d-1)/2\rfloor$ errors, the traditional Shor scheme handles ancilla ...
arxiv   +1 more source

CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses

BMC Urology, 2020
Background Xanthine urinary stones are a rare entity that may occur in patients with Lesch–Nyhan syndrome receiving allopurinol. There is little literature describing imaging characteristics of these stones, and the most appropriate approach to imaging ...
Stephanie B. Shamir, Qi Peng, Alan H. Schoenfeld, Beth A. Drzewiecki, Mark C. Liszewski   +4 more
doaj   +1 more source