226 related articles for article (PubMed ID: 11113762)
21. Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Cameron JS; Simmonds HA; Webster DR; Wass V; Sahota A
Adv Exp Med Biol; 1984; 165 Pt A():7-12. PubMed ID: 6720419
[No Abstract] [Full Text] [Related]
22. Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.
Mitchell G; McInnes RR
Can Med Assoc J; 1984 May; 130(10):1323-4. PubMed ID: 6722697
[TBL] [Abstract][Full Text] [Related]
23. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
Edwards NL; Recker D; Fox IH
J Clin Invest; 1979 May; 63(5):922-30. PubMed ID: 447834
[TBL] [Abstract][Full Text] [Related]
24. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
[TBL] [Abstract][Full Text] [Related]
25. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J
Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417
[TBL] [Abstract][Full Text] [Related]
26. Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.
Ambarsari CG; Cahyadi D; Sari L; Satria O; Sahli F; Darmadi TL; Kadaristiana A
Ren Fail; 2020 Nov; 42(1):113-121. PubMed ID: 31985336
[No Abstract] [Full Text] [Related]
27. Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Thumfart J; Weschke B; Ringe H; Weinhold N; Müller D
Eur J Paediatr Neurol; 2016 Jul; 20(4):649-51. PubMed ID: 27185581
[TBL] [Abstract][Full Text] [Related]
28. Late diagnosis of Lesch-Nyhan disease variant.
Doucet BP; Jegatheesan D; Burke J
BMJ Case Rep; 2013 Dec; 2013():. PubMed ID: 24326440
[TBL] [Abstract][Full Text] [Related]
29. [A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
Maruta K; Ohi T; Yamada Y; Goto H; Ogasawara N; Matsukura S
No To Shinkei; 1997 Nov; 49(11):1009-13. PubMed ID: 9396032
[TBL] [Abstract][Full Text] [Related]
30. Self-mutilation behaviour in Lesch-Nyhan syndrome.
Cauwels RG; Martens LC
J Oral Pathol Med; 2005 Oct; 34(9):573-5. PubMed ID: 16138897
[TBL] [Abstract][Full Text] [Related]
31. [Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)].
Schneider W; Morgenstern E; Schindera I
Dtsch Med Wochenschr; 1976 Jan; 101(5):167-72. PubMed ID: 1248389
[TBL] [Abstract][Full Text] [Related]
32. [Complete and partial deficiency of HPRT].
Ogasawara N
Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
[TBL] [Abstract][Full Text] [Related]
33. Long-term follow-up of ten patients with Lesch-Nyhan syndrome.
Mizuno T
Neuropediatrics; 1986 Aug; 17(3):158-61. PubMed ID: 3762872
[TBL] [Abstract][Full Text] [Related]
34. The Lesch-Nyhan syndrome.
Nyhan WL
Dev Med Child Neurol; 1978 Jun; 20(3):376-80. PubMed ID: 307504
[No Abstract] [Full Text] [Related]
35. Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
Roche A; Pérez-Dueñas B; Camacho JA; Torres RJ; Puig JG; García-Cazorla A; Artuch R
Am J Kidney Dis; 2009 Apr; 53(4):677-80. PubMed ID: 18992978
[TBL] [Abstract][Full Text] [Related]
36. Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
Hersh JH; Page T; Hand ME; Seegmiller JE; Nyhan WL; Weisskopf B
Pediatr Neurol; 1986; 2(5):302-4. PubMed ID: 3508703
[TBL] [Abstract][Full Text] [Related]
37. [Erythrocyte purine phosphoribosyltransferase activity in girls with the Lesch-Nyhan syndrome].
Aleksandrova LA; Shaposhnikov AM
Vopr Med Khim; 1981; 27(4):488-92. PubMed ID: 7293080
[TBL] [Abstract][Full Text] [Related]
38. Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome.
Hou JW
Acta Paediatr; 2006 Nov; 95(11):1500-4. PubMed ID: 17062485
[TBL] [Abstract][Full Text] [Related]
39. Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
Fu R; Chen CJ; Jinnah HA
Mol Genet Metab; 2014 Aug; 112(4):280-5. PubMed ID: 24930028
[TBL] [Abstract][Full Text] [Related]
40. Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
Sharma S; Jiménez RT; Aneja S; Garcia MG; Sethi GR
Indian J Pediatr; 2012 Nov; 79(11):1520-2. PubMed ID: 22183764
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
