Results 111 to 120 of about 1,232,023 (188)

[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

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

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 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

Paciente con síndrome de Lesch-Nyhan atendido en el Departamento de Estomatología Pediátrica del Hospital Infantil de Tamaulipas. Reporte de caso

, 2017
El síndrome de Lesch-Nyhan es una enfermedad de origen hereditario que se presenta sólo en varones y se caracteriza por la deficiencia total de la enzima hipoxantina fosforribosil transferasa.
Villagrán Uribe, Juan, Cervantes Castro, Karol   +1 more
core  

Lesch-Nyhan syndrome with HPRT1 gene mutation: a report of two cases with a literature review

Linchuang shenzangbing zazhi
Yuan Yan, Xiao-wen Wang, Hui-hui Yang
doaj   +1 more source

Síndrome de Lesch-Nyhan, reporte de un caso clínico: Síndrome de Lesh-Nyhan

El síndrome de Lesch Nyhan es una rara patología cuya incidencia es de 1/380 000 de los nacimientos vivos y en cuyas principales manifestaciones aparecen entre los 3 y 6 meses de edad, y se debe a un error congénito del metabolismo de las purinas, que es
Monroy Delgadillo, Manuel Antonio, Flores Saavedra, Sthephany, Rojas Salazar, Enrique Gonzalo   +2 more
core  

Lesch Nyhan syndrome.

Indian pediatrics, 1984
J M, Puliyel, M, Kumar
openaire   +3 more sources

Improvement in Quality of Life Using an Ethylene-Vinyl Acetate Palatal Obturator in a Patient with Self-Inflicted Nasal Defect and Palatal Perforation. [PDF]

J Clin Exp Dent
Horie N, Kusano K, Yokozeki K, Osada K, Nagayasu H, Shimo T, Murata M.   +6 more
europepmc   +1 more source