Results 91 to 100 of about 1,232,023 (188)

Epidemiology and types of urolithiasis

Pediatria i Medycyna Rodzinna, 2019
Urolithiasis is a lifestyle disease. Sex, age, race, place of residence (geographical region), chronic diseases, lifestyle (including diet) and various genetic factors contribute to the risk of calculus formation within the urinary tract.
Agnieszka Szmigielska, Piotr Skrzypczyk, Małgorzata Pańczyk-Tomaszewska   +2 more
doaj   +1 more source

Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg. [PDF]

J Korean Assoc Oral Maxillofac Surg, 2023
Shapira J.
europepmc   +1 more source

The trend toward digital in medical education – playing devil's advocate

Advances in Medical Education and Practice, 2015
Osama Al-jibury, Maroof Ahmed, Muhammad Najim, Riham Rabee, Muhammad Ashraf, Yusuf Sherwani, Osama AnjumDepartment of Medicine, Imperial College Medical School, London, UKDigitalization of medical resources has completely revolutionized medical education.
Al-Jibury O, Ahmed M, Najim M, Rabee R, Ashraf M, Sherwani Y, Anjum O   +6 more
doaj  

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]

J Genet Couns, 2022
Zhang T, Briere JM, Leeman KT, Wojcik MH, Agrawal PB.   +4 more
europepmc   +1 more source

A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report

Bulletin of the National Research Centre
Introduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky, Saloni Trivedi, Asama Rana, Mitchell Thomae   +3 more
doaj   +1 more source

Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. [PDF]

Antioxidants (Basel), 2023
Reisz JA, Dzieciatkowska M, Stephenson D, Gamboni F, Morton DH, D'Alessandro A.   +5 more
europepmc   +1 more source

NUOVA TERAPIA PER IL TRATTAMENTO DELL'IPERURICEMIA NELLA SINDROME DI LESCH-NYHAN

, 2014
La presente invenzione si riferisce all’uso di composti noti per il trattamento farmacologico delle condizioni di iperuricemia associate a una malattia genetica rara, la sindrome di Lesch ...
Gabriella Iacomelli, Eva baldini, Federico Corelli, Vanna Micheli, Claudia Mugnaini   +4 more
core   +1 more source

A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome

Innovaciencia, 2016
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural ...
Adriana María Gil Zapata, Adriana Castillo Pico, Leonor Gusmão, António Amorim, Fernando Rodríguez Sanabria   +4 more
doaj   +1 more source

Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]

Cureus, 2023
Baird-Daniel E, Glaser A, Boop S, Durfy S, Hauptman JS.   +4 more
europepmc   +1 more source

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome-1

, 2011
Copyright information:Taken from "Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome"http://www.OJRD.com/content/2/1/48Orphanet Journal of Rare Diseases 2007;2():48-48.Published online 8 Dec 2007PMCID:PMC2234399.
Juan G Puig (86486), Rosa J Torres (86485)   +1 more
core   +1 more source