Results 31 to 40 of about 4,773 (143)

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

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

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

Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients [PDF]

, 2015
How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol.
BOROUJERDI, Razieh, NADDAFNIA, Hosein, REZAEI*, Hojatolah, SHARIATI, Mohsen   +3 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

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, Valeria Luzzi, Gian Luca Sfasciotti, Antonella Polimeni, Maurizio Bossù   +4 more
doaj   +1 more source

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

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

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, Cavanagh, Jonathan, Jampana, Ravi, Mackay, Graham Andrew   +3 more
core   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source