Results 71 to 80 of about 2,250 (157)

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

[The Lesch-Nyhan syndrome].

Srpski arhiv za celokupno lekarstvo, 2002
Deficiency of hypoxanthine phosphoribosyltransferase (HPRT) has a broad spectrum of clinical manifestations, from the complete enzyme defect, the Lesch-Nyhan syndrome with severe neurological deficiency to the partial defect associated only with uric acid overproduction and its consequences. We present a 5-year old boy with Lesch-Nyhan syndrome.
A, Peco-Antić, Z, Smoljanić, N, Dimitrijević, M, Kostić, O, Marsenić, M, Djordjević, D, Kruscić   +6 more
openaire   +1 more source

Conservative management of oral self-mutilation in Lesch–Nyhan syndrome enhanced by a digital workflow: a case report

Journal of Rare Diseases
Introduction Lesch-Nyhan Syndrome (LNS) is a rare X-linked disorder characterized by the triad of hyperuricemia, neurological dysfunction, and compulsive self-injurious behavior, often involving oral self-mutilation.
Flávio de Melo Garcia, Lívia de Oliveira Bottura, Fabiana Schmidt de Oliveira, Verônica Caroline Brito Reia, Cristiane Maria da Costa Silva, Paulo Sérgio da Silva Santos   +5 more
doaj   +1 more source

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]

J Endourol Case Rep, 2020
Meagher MF, Bechis SK.
europepmc   +1 more source

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. [PDF]

Medicine (Baltimore), 2020
Lee J, Jung SM, Jeon S.
europepmc   +1 more source

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Weng TF, Li JP, Tin CH, Wu KH.
europepmc   +1 more source

Lesch-Nyhan syndrome a dental approach: case report. [PDF]

Afr Health Sci
Luz Campos PSS, da Silva LCP, Taitson PF, da Silva Oliveira LA, Bautista LC.   +4 more
europepmc   +1 more source

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports. [PDF]

Int J Clin Pediatr Dent
Negi S, Tripathy S, Merchant Y, Mathur A, Mehta V.   +4 more
europepmc   +1 more source

Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome. [PDF]

Cureus
Pan S, Truss A, Hussain S.
europepmc   +1 more source