Results 31 to 40 of about 2,914 (160)

Guanine is an inhibitor of c-jun terminal kinases [PDF]

Scientific Reports
The toxicity of purine bases adenine and guanine is mostly recognized when associated with inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a lifestyle component including gout.
Jessica Treeby, Sherihan El-Sayed, Samuel Morgan, Sophie Maddock, George Taylor, Stacey Warwood, Julian Selley, David Knight, Benjamin Saer, Richard A. Bryce, Jean-Michel Fustin   +10 more
doaj   +2 more sources

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Weng TF, Li JP, Tin CH, Wu KH.
europepmc   +3 more sources

Lesch-Nyhan Syndrome: Models, Theories, and Therapies. [PDF]

Mol Syndromol, 2016
Bell S, Kolobova I, Crapper L, Ernst C.
europepmc   +3 more sources

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

Movement disorders in male children: Lesch–Nyhan syndrome

Annals of Movement Disorders
Leema Pauline Cornelius, Jered Livingston, Neeraj Elango   +2 more
doaj   +2 more sources

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

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, Danijela Petković Ramadža, Goran Šimić, Ivo Barić   +3 more
doaj   +1 more source

Lesch-Nyhan Syndrome

Nanagiri A, Shabbir N.
europepmc   +3 more sources

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, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source