Results 1 to 10 of about 4,477 (107)

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]

Cureus, 2022
Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase.
Ferrão J, Rodrigues Barros C, Figueiredo L, Fernandes A.   +3 more
europepmc   +4 more sources

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study [PDF]

Eur J Neurol
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Kilmer J, Ransley G, Murphy E, Hanna M, Pitceathly R, Rajakulendran S, Pizzamiglio C.   +6 more
europepmc   +2 more sources

Disability, Relational Equality, and the Expressivist Objection. [PDF]

Hastings Cent Rep
Abstract Proponents of the expressivist objection argue that the use and provision of testing to select against disability in offspring express negative judgments about existing persons with disabilities. But does the expression of such judgments also wrong those persons?
Magnusson E.
europepmc   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz E, Schwartz IVD, Maillot F.   +7 more
europepmc   +2 more sources

Adenylyl cyclase 2 expression and function in neurological diseases. [PDF]

CNS Neurosci Ther
Mutations and expression changes of adenylyl cyclase 2 (Adcy2), a CNS‐enriched enzyme that converts ATP to cAMP, are associated with several neurodegenerative and psychiatric disorders. Abstract Adenylyl cyclases (Adcys) catalyze the formation of cAMP, a secondary messenger essential for cell survival and neurotransmission pathways in the CNS.
Gray M, Nash KR, Yao Y.
europepmc   +2 more sources

Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report [PDF]

, 2021
Objectives Lesch-Nyhan syndrome is a rare inherited disorder associated with self-harming behaviors, delayed mental and motor development, and disturbances such as dysarthria, choreoathetosis, and spasticity.
Eftekhar, Leila, Mohamadian, Fatemeh, Tahmasbi, Soodeh, Tavakol Davani, Shiva   +3 more
core   +2 more sources

Lesch-Nyhan syndrome: case brief of a rare disease [PDF]

, 2018
Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Agarwalla, Sunil Kumar, Satapathy, Jagatshreya   +1 more
core   +2 more sources

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

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

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