Results 41 to 50 of about 8,820 (262)

Diagnosis and Treatment of the Lesch-Nyhan Syndrome [PDF]

Pediatric Research, 1972
J F Henderson, J F Henderson, J F Henderson, William N. Kelley, William N. Kelley, William N. Kelley, J C Crawhall, J C Crawhall, J C Crawhall   +8 more
openaire   +3 more sources

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports. [PDF]

Int J Clin Pediatr Dent
Negi S, Tripathy S, Merchant Y, Mathur A, Mehta V.   +4 more
europepmc   +2 more sources

Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.

Indian J Psychol Med, 2016
Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available.
Mohapatra S, Sahoo AJ.
europepmc   +2 more sources

Clinical utility gene card for: Lesch-Nyhan syndrome. [PDF]

Eur J Hum Genet, 2011
Torres RJ, Puig JG, Ceballos-Picot I.
europepmc   +3 more sources

Anaesthetic management of a child with Lesch Nyhan syndrome.

Indian J Anaesth, 2019
Banerjee S, Sinha SK, Varshney PG, Ahuja P.   +3 more
europepmc   +2 more sources

Paths to functional communication of children with developmental anarthria - case reports

Listy klinicke logopedie, 2022
We introduce the application of alternative and augmentative communication aids in children with combined disabilities and symptomatic speech disorders.
Milada Janoušková, Jitka Komrsková, Jana Havlíčková   +2 more
doaj   +1 more source

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. [PDF]

Intractable Rare Dis Res, 2017
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e.
Tewari N, Mathur VP, Sardana D, Bansal K.   +3 more
europepmc   +2 more sources

Decoding of Quantum Data-Syndrome Codes via Belief Propagation [PDF]

in Proc. IEEE International Symposium on Information Theory (ISIT), 2021, pp. 1552--1557, 2021
Quantum error correction is necessary to protect logical quantum states and operations. However, no meaningful data protection can be made when the syndrome extraction is erroneous due to faulty measurement gates. Quantum data-syndrome (DS) codes are designed to protect the data qubits and syndrome bits concurrently.
arxiv   +1 more source

Lesch-Nyhan syndrome

Definitions, 2020
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid.
Rohit Sharma, Maxwell Frye
semanticscholar   +1 more source

Attenuated variants of Lesch-Nyhan disease [PDF]

, 2010
Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe ...
A. Cossu, A. Verdu, Adler, Anderson, Anderson, Andr  s, Ashour, Bakay, Bitler, Bouwens-Rombouts, Burke, C.-H. Wu, C.-J. Chen, Cameron, Chang, Cossu, D. J. Schretlen, Dancis, Davidson, Dawson, Dussol, Ea, Egami, Ernst, Fairbanks, Garcia, Gottlieb, H. A. Jinnah, Hersh, Hidalgo-Laos, Holland, Hunter, I. Ceballos-Picot, J. C. Harris, J. E. Visser, J. G. Puig, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, KELLEY, Kiziltan, L. E. Larovere, Larovere, Lesch, Lightfoot, Lloyd, Mak, Marcus, Mateos, Matthews, McDonald, Nausieda, Nyhan, O'Neill, Page, Page, Puig, R. D. de Kremer, R. J. Torres, R. Sampat, Rijksen, S. G. Reich, S.-J. Chang, Schretlen, Schretlen, Sege-Peterson, Snyder, Srivastava, Torres, Visser, W. Nyhan, Wong, Wu, Yang, Yang, Yeh, Zoref-Shani   +79 more
core   +3 more sources