Results 51 to 60 of about 7,545 (235)

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

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

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 disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients [PDF]

, 2021
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia ...
Becerra, Adriana Berónica, Dodelson de Kremer, Raquel, Escuredo, Emilia, Fairbanks, Lynette D., Guelbert, Norberto Bernardo, Jinnah, H. A., Laróvere, Laura Elena   +6 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, Mohammad Adil, Syed Suhail Amin, Fatima Tuz Zahra   +3 more
doaj   +1 more source

Attenuated variants of Lesch-Nyhan disease [PDF]

, 2010
Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe ...
A. Cossu, A. Verdu, Adler, Anderson, Anderson, Andr  s, Ashour, Bakay, Bitler, Bouwens-Rombouts, Burke, C.-H. Wu, C.-J. Chen, Cameron, Chang, Cossu, D. J. Schretlen, Dancis, Davidson, Dawson, Dussol, Ea, Egami, Ernst, Fairbanks, Garcia, Gottlieb, H. A. Jinnah, Hersh, Hidalgo-Laos, Holland, Hunter, I. Ceballos-Picot, J. C. Harris, J. E. Visser, J. G. Puig, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, KELLEY, Kiziltan, L. E. Larovere, Larovere, Lesch, Lightfoot, Lloyd, Mak, Marcus, Mateos, Matthews, McDonald, Nausieda, Nyhan, O'Neill, Page, Page, Puig, R. D. de Kremer, R. J. Torres, R. Sampat, Rijksen, S. G. Reich, S.-J. Chang, Schretlen, Schretlen, Sege-Peterson, Snyder, Srivastava, Torres, Visser, W. Nyhan, Wong, Wu, Yang, Yang, Yeh, Zoref-Shani   +79 more
core   +3 more sources

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, Qi Peng, Alan H. Schoenfeld, Beth A. Drzewiecki, Mark C. Liszewski   +4 more
doaj   +1 more source

Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation [PDF]

, 2023
Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, reported by their ratio to ...
Bjerre, Anna Kristina, Bliksrud, Yngve Thomas, Brun, Atle, Flemmen, Per Tryggve Kjelland, Mørkrid, Lars, Salvador, Cathrin Lytomt, Tsui, Ellen Fun Fong, Tøndel, Camilla   +7 more
core   +1 more source

Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus derived cDNA expression vector. [PDF]

, 1991
Human cells are, in general, poor recipients of foreign DNA, which has severely hampered the cloning of genes by direct phenotypic correction of deficient human cell lines after DNA mediated gene transfer. In this communication a methodology is presented
Backendorf, C.M.P. (Claude), Belt, P.B.G.M., Hoeijmakers, J.H.J. (Jan), Jongmans, W., Putte, P. (Pieter) van de, Wit, J. (Jan) de   +5 more
core   +2 more sources

Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer

AIMS Neuroscience, 2022
A heterozygous Arg393His point mutation at the reactive site of antithrombin (AT) gene causing thrombosis in a Vietnamese patient is reported and named as Arg393His in AT-Hanoi.
Khue Vu Nguyen
doaj   +1 more source