Results 21 to 30 of about 4,773 (143)

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, Valerii Chornyi, Ihor Yevstihnieiev, Ihor Hutnik, Oleksandra Smolianova, Nataliia Romuz, Kateryna Esterkina, Kateryna Pervieieva   +7 more
doaj   +1 more source

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

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   +4 more sources

Lesch-Nyhan syndrome: case brief of a rare disease [PDF]

, 2018
Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Agarwalla, Sunil Kumar, Satapathy, Jagatshreya   +1 more
core   +2 more sources

Lesch-Nyhan Syndrome

Pediatric Neurology Briefs, 1988
Five boys with Lesch-Nyhan syndrome and varying degrees of dystonia, chorea, spasticity, ataxia, dysarthria, and mental retardation were studied at the Depts of Neurology and Medicine, Baylor College of Medicine, and Depts of Neurology and Pediatrics ...
J Gordon Millichap
doaj   +1 more source

Update on Genetic Chorea. [PDF]

Eur J Neurol
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, Bernal S, Pagonabarraga J, Kulisevsky J.   +5 more
europepmc   +2 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, 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

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

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
doaj   +1 more source

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources