Results 21 to 30 of about 2,250 (157)
Journal of Pediatric Rehabilitation Medicine, 2021 Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his
Courtney Gilbert +2 more
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Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
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LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case
Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021 Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Oleksii Khaniukov +7 more
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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
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Prenatal Diagnosis of Lesch-Nyhan Syndrome
Pediatric Neurology Briefs, 1995 The results of carrier and prenatal diagnosis for Lesch-Nyhan syndrome by carrier testing of 83 women and prenatal analysis of 26 pregnancies are reported from the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
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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
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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
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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
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