New personalized genetic mouse model of Lesch-Nyhan syndrome for pharmacology and gene therapy [PDF]
Research Results in Pharmacology, 2018 Introduction: Lesch-Nyhan syndrome is a clinical and laboratory disorder caused by X-linked disruption of the purine metabolism. The deletion in the HPRT1 gene leads to the disappearance of valine in the eighth position of the protein amino acid sequence.
Vladislav Kalmykov +8 more
doaj +3 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 +2 more
doaj +1 more source
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 +45 more
core +4 more sources
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 +45 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 +3 more
doaj +1 more source
A 50 year old with a rapid neuropsychiatric deterioration and choreaform movements [PDF]
, 2017 A 50-year-old man presented acutely to the hospital with behavioural disturbance, choreiform movements and profound nihilistic delusions. He reported recent drug and alcohol abuse, and also apparent involvement in several recent criminal activities, for ...
Campbell, Stewart +3 more
core +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 +3 more
doaj +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 +4 more
doaj +1 more source
A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients
International Journal of Dentistry, 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 ...
Giulia Ragazzini +4 more
doaj +1 more source
Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries
Applied Sciences, 2020 Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo +4 more
doaj +1 more source