Results 71 to 80 of about 1,232,023 (188)

Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.

, 1993
Lesch-Nyhan syndrome is an X-linked recessive disorder caused by molecular defects within the HPRT gene. Deletional forms of this syndrome, most of which are inherited, account for 15% of the cases.
T. Parrella, M. N. Kronick, M. Sartore, E. Rappaport, P. Kaplan, L. Wrabetz, A. Blasband, FORTINA, PAOLO, E. S. Mansfield, S. Surrey   +9 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients

, 2013
Background, rationale, and methods . Lesch-Nyhan disease is a rare, X-linked disorder due to hypoxanthine phosphoribosyltransferase deficiency. To evaluate reported benefit on mood and behavior obtained by the administration of S-adenosyl-l-methionine ...
Gilberto Andrighetto, U. Hladnik, D. Dolcetta, Roberta Bernardelle, Giuseppe Baschirotto, G. Baschirotto, Luigi Salmaso, SALMASO, LUIGI, Uros Hladnik, CESARI, UGO, Diego Dolcetta, P. Parmigiani, R. Bernardelle, W. L. Nyhan, U. Cesari, G. Andrighetto, William L. Nyhan, Pietro Parmigiani   +17 more
core   +1 more source

Varieties of Pathological Self-Mutilation

Behavioural Neurology, 1990
Pathological self-mutilation appears as a non-specific symptom as well as a specific syndrome. Since psychotic persons may commit horrifying acts, such as enucleation of an eye or amputation of a body part, identification of high risk patients is crucial.
Armando R. Favazza, Richard J. Rosenthal
doaj   +1 more source

Which neurodevelopmental disorders get researched and why?

PLoS ONE, 2010
AimThere are substantial differences in the amount of research concerned with different disorders. This paper considers why.MethodsBibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders ...
Dorothy V M Bishop
doaj   +1 more source

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

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
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 Rare Case of PCH10 With CLP1 Mutation: Clinical Features and Dental Management of Riga–Fede Lesion in a Pediatric Patient

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Background Pontocerebellar hypoplasia Type 10 (PCH10) is an extremely rare autosomal recessive neurodegenerative disorder caused by biallelic mutations in the CLP1 gene. The disease is characterized by severe developmental delay, progressive microcephaly, epilepsy, spasticity, and craniofacial dysmorphic features. To our knowledge, Riga–Fede disease in
Merve Mısır, Yelda Kasimoglu, Mine Koruyucu, Hannah Wesley   +3 more
wiley   +1 more source

In Vitro Effects of Magnesium Ions on Mutant Cells from Patients with the Lesch-Nyhan Syndrome

, 1973
Addition of nontoxic amounts of magnesium ions to fibroblast cell cultures from patients with the Lesch-Nyhan syndrome increased both the rate of cell growth in limiting medium and the enzymatic activity of the mutant hypoxanthine-guanine ...
Norma Herrick, Hebert, Annette, Paul J. Benke, Benke, Paul J, Annette Hebert, Herrick, Norma   +5 more
core   +1 more source

Paddy Stem–Derived Activated Carbon‐Based Uricase Biosensor for Highly Sensitive Electrochemical Detection of Uric Acid

Journal of Nanotechnology, Volume 2026, Issue 1, 2026.
For the diagnosis and management of metabolic diseases, such as gout, hyperuricemia, hypertension, and diabetes, accurate and timely measurement of uric acid (UA) is essential. This article presents the design of low‐cost and eco‐friendly enzymatic electrochemical biosensors to detect UA through the use of porous activated carbon nanomaterial (PSAC ...
Poonam Thakur, Nancy George, Neha Kondal, Kamal Kishor Thakur, Puja Jaiswal, Jagpreet Singh   +5 more
wiley   +1 more source

A rare case of Lesch-Nyhan syndrome in adulthood [PDF]

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder characterized by hyperuricemia, neurodevelopmental delay, self-mutilation, and gouty arthritis.
Zafar, Sharjeel, Shafique, Hira
core   +1 more source