Results 31 to 40 of about 5,948 (186)

Self-injurious behavior in a young child with lesch-nyhan syndrome

Indian Journal of Psychological Medicine, 2016
Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available.
Satyakam Mohapatra, Alok Jyoti Sahoo
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

Lesch-Nyhan Syndrome

Nanagiri A, Shabbir N.
europepmc   +3 more sources

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients [PDF]

, 2015
International audienceBackground: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ...
Brassier, Anaïs, Cahu, Julie, Ceballos-Picot, Irène, Daignan-Fornier, Bertrand, Ea, Hang-Korng, Jais, Jean-Philippe, Le dantec, Aurélia, Ledroit, Morgan, Pinson, Benoit   +8 more
core   +3 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source

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

A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients

International Journal of Dentistry, 2014
Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme ...
Giulia Ragazzini, Alessia Delucchi, Enrico Calcagno, Roberto Servetto, Gloria Denotti   +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