Results 131 to 140 of about 8,820 (262)

Adenine and Folic Acid in the Lesch-Nyhan Syndrome [PDF]

, 1973
Paul J. Benke, Norma Herrick, Lizabeth Smitten, Carolyn R. Aradine, Ronald H. Laessig, George J Wolcott   +5 more
openalex   +1 more source

Self-injurious behaviour in young children with Lesch-Nyhan syndrome [PDF]

, 2001
Scott S. Hall, Chris Oliver, Glyn Murphy
openalex   +3 more sources

A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome

Innovaciencia, 2016
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural ...
Adriana María Gil Zapata, Adriana Castillo Pico, Leonor Gusmão, António Amorim, Fernando Rodríguez Sanabria   +4 more
doaj   +1 more source

Rapid prenatal diagnosis of the Lesch-Nyhan syndrome. [PDF]

, 1977
Dicky Halley, M J Heukels-Dully
openalex   +1 more source

Evidence for Treatable Inborn Errors of Metabolism in a Cohort of 187 Greek Patients with Autism Spectrum Disorder (ASD)

Frontiers in Human Neuroscience, 2013
We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4 -14 years old) who presented with confirmed features of ASD.
Martha eSpilioti, Athanasios eEvangeliou, Despoina eTramma, Zoe eTheodoridou, Spyridon eMetaxas, Eleni eMichailidi, Eleni eBonti, Helen eFrysira, Katerina eHaidopoulou, Despoina eAsprangathou, Aggelos eTsalkidis, Panagiotis eKardaras, Ron eWevers, Cornelis eJakobs, Michael eGibson   +14 more
doaj   +1 more source

Estimating detector error models from syndrome data [PDF]

arXiv
Protecting quantum information using quantum error correction (QEC) requires repeatedly measuring stabilizers to extract error syndromes that are used to identify and correct errors. Syndrome extraction data provides information about the processes that cause errors.
arxiv  

Proceedings: Necropsy findings in a case of Lesch-Nyhan syndrome. [PDF]

, 1975
V Mahnovski, S Dozić, D Vulović, B Marjanović, Goran Tasić   +4 more
openalex   +1 more source

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint) [PDF]

, 1988
Beverly L. Davidson, Mohammed Pashmforoush, William N. Kelley, Thomas D. Palella   +3 more
openalex   +1 more source

Italian experience with Lesch-Nyhan patients and animal models of the disease

The EuroBiotech Journal, 2017
Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome.
Micheli Vanna, Bertelli Matteo
doaj   +1 more source

Research Treatments for Self Injurious Behavior with Unclear or Automatically Reinforced Causes and their Correlation to Least Restrictive Behavioral Interventions [PDF]

, 2002
Self injurious behavior (SIB) is one of the most perplexing and frightening behaviors exhibited by some students. SIB is defined as behavior wherein the individual is engaging in repetitive or stereotypical behaviors that may and in some cases does ...
Blamires, Valarie
core   +1 more source