PubMed

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

Ea HK, Bardin T, Jinnah HA, Aral B, Lioté F, Ceballos-Picot I.

Arthritis Rheum. 2009 Jul;60(7):2201-4.PMID: 19565499 [PubMed - indexed for MEDLINE]Related articles

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA.

Hum Mol Genet. 2009 Jul 1;18(13):2317-27. Epub 2009 Apr 2.PMID: 19342420 [PubMed - indexed for MEDLINE]Related articles

Reflections: neurology and the humanities. You had the choice, Martha.

Shipley V.

Neurology. 2009 Mar 24;72(12):1106. No abstract available. PMID: 19307548 [PubMed - indexed for MEDLINE]Related articles

Lesch-Nyhan disease: from mechanism to model and back again.

Jinnah HA.

Dis Model Mech. 2009 Mar-Apr;2(3-4):116-21.PMID: 19259384 [PubMed - indexed for MEDLINE]Related articlesFree article

Uric acid and cardiovascular risk.

Trivedi N.

N Engl J Med. 2009 Jan 29;360(5):539; author reply 540-1. No abstract available. PMID: 19186312 [PubMed - indexed for MEDLINE]Related articles

Chronic peritoneal dialysis in a 4-year-old boy with Lesch-Nyhan disease.

Kim SJ, Sohn YB, Park SW, Jin DK, Paik KH.

Pediatr Nephrol. 2009 May;24(5):1089-90. Epub 2008 Dec 19. No abstract available. PMID: 19096880 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Nov 6.PMID: 18992978 [PubMed - indexed for MEDLINE]Related articles

Is ZMP the toxic metabolite in Lesch-Nyhan disease?

López JM.

Med Hypotheses. 2008 Nov;71(5):657-63. Epub 2008 Aug 16.PMID: 18710792 [PubMed - indexed for MEDLINE]Related articles

A 2-year-old male with developmental delay, irritability, and failure to thrive.

Hsieh DT, Gropman AL, Pearl PL.

Pediatr Ann. 2008 Jul;37(7):459-60, 463. No abstract available. PMID: 18710135 [PubMed - indexed for MEDLINE]Related articles

Unusual presentation of Kelley-Seegmiller syndrome.

Sebesta I, Stibårková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55.PMID: 18600521 [PubMed - indexed for MEDLINE]Related articles

Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.

Verdú A, Torres RJ, Merinero B, Puig JG.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):575-7.PMID: 18600507 [PubMed - indexed for MEDLINE]Related articles

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4.PMID: 18600506 [PubMed - indexed for MEDLINE]Related articles

The diagnosis of HPRT deficiency in the 21st century.

Torres RJ, Puig JG.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):564-9.PMID: 18600505 [PubMed - indexed for MEDLINE]Related articles

Lesch-Nyhan disease.

Nyhan WL.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):559-63.PMID: 18600504 [PubMed - indexed for MEDLINE]Related articles

Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

Serrano M, Pérez-Dueñas B, Ormazábal A, Artuch R, Campistol J, Torres RJ, García-Cazorla A.

Mov Disord. 2008 Jul 15;23(9):1297-300.PMID: 18528895 [PubMed - indexed for MEDLINE]Related articles

Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome.

Gutierrez C, Pellene A, Micheli F.

Clin Neuropharmacol. 2008 May-Jun;31(3):180-3.PMID: 18520986 [PubMed - indexed for MEDLINE]Related articles

Normal HPRT coding region in complete and partial HPRT deficiency.

García MG, Torres RJ, Prior C, Puig JG.

Mol Genet Metab. 2008 Jun;94(2):167-72. Epub 2008 Mar 7.PMID: 18316217 [PubMed - indexed for MEDLINE]Related articles

A model of behavioral treatments for self-mutilation behavior in Lesch-Nyhan syndrome.

Zilli EA, Hasselmo ME.

Neuroreport. 2008 Mar 5;19(4):459-62.PMID: 18287946 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Torres RJ, Puig JG.

Orphanet J Rare Dis. 2007 Dec 8;2:48. Review.PMID: 18067674 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.

Wong H, Feber J, Chakraborty P, Drukker A, Filler G.

Pediatr Nephrol. 2008 Feb;23(2):317-21. Epub 2007 Oct 13.PMID: 17934765 [PubMed - indexed for MEDLINE]Related articles