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27185581 | Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex. | 2016 Jul |
2 |
| 2 |
27375492 | Plasma Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Bottlenose Dolphins Contributes to Avoiding Accumulation of Non-recyclable Purines. | 2016 |
2 |
| 3 |
25767547 | Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. | 2015 Winter |
1 |
| 4 |
26027255 | [The hypoxic syndrome in children with cardiomyopathy]. | 2015 Feb |
1 |
| 5 |
25101126 | A modified intraoral resin mouthguard to prevent self-mutilations in lesch-nyhan patients. | 2014 |
1 |
| 6 |
25136576 | Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients. | 2014 |
1 |
| 7 |
23348497 | ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. | 2013 Feb 25 |
2 |
| 8 |
21331772 | Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. | 2011 Oct |
2 |
| 9 |
20544510 | Partial HPRT deficiency phenotype and incomplete splicing mutation. | 2010 Jun |
1 |
| 10 |
19565499 | Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase. | 2009 Jul |
1 |
| 11 |
18067674 | Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. | 2007 Dec 8 |
1 |
| 12 |
16358551 | Association between cigarette smoking and hypoxanthine guanine phosphoribosyltransferase activity. | 2005 Nov |
1 |
| 13 |
15277709 | Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells. | 2004 |
2 |
| 14 |
12829005 | Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. | 2003 Jul 15 |
1 |
| 15 |
11241585 | Hypoxanthine impairs morphogenesis and enhances proliferation of a neuroblastoma model of Lesch Nyhan syndrome. | 2001 Mar 15 |
2 |
| 16 |
11928606 | [The Lesch-Nyhan syndrome]. | 2001 Sep-Oct |
1 |
| 17 |
10451080 | Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout. | 1999 Aug |
3 |
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