PubMed (Bookshelf cited) for id: 9721

Year	Number of Results
1998	1
2000	2
2001	1
2003	2
2004	1
2005	2
2006	2
2010	2
2011	1
2013	3
2014	3
2015	1
2017	1
2018	2
2019	2
2024	0

1

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I. Madeo A, et al. Mol Genet Metab. 2019 Jun;127(2):147-157. doi: 10.1016/j.ymgme.2019.06.001. Epub 2019 Jun 3. Mol Genet Metab. 2019. PMID: 31182398

2

Macrocytic anemia in Lesch-Nyhan disease and its variants.

Cakmakli HF, Torres RJ, Menendez A, Yalcin-Cakmakli G, Porter CC, Puig JG, Jinnah HA. Cakmakli HF, et al. Genet Med. 2019 Feb;21(2):353-360. doi: 10.1038/s41436-018-0053-1. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875418 Free PMC article.

3

Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example.

Cotton AC, Bell RB, Jinnah HA. Cotton AC, et al. JIMD Rep. 2018;41:25-27. doi: 10.1007/8904_2017_80. Epub 2017 Dec 15. JIMD Rep. 2018. PMID: 29243037 Free PMC article.

4

Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Fu R, Sutcliffe D, Zhao H, Huang X, Schretlen DJ, Benkovic S, Jinnah HA. Fu R, et al. Mol Genet Metab. 2015 Jan;114(1):55-61. doi: 10.1016/j.ymgme.2014.11.001. Epub 2014 Nov 8. Mol Genet Metab. 2015. PMID: 25481104 Free PMC article.

5

Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.

Göttle M, Prudente CN, Fu R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA. Göttle M, et al. Ann Neurol. 2014 Jul;76(1):95-107. doi: 10.1002/ana.24191. Epub 2014 Jun 20. Ann Neurol. 2014. PMID: 24891139 Free PMC article.

6

Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

Schretlen DJ, Varvaris M, Ho TE, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA. Schretlen DJ, et al. Lancet Neurol. 2013 Dec;12(12):1151-8. doi: 10.1016/s1474-4422(13)70238-2. Lancet Neurol. 2013. PMID: 24383089 Free PMC article.

7

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Ceballos-Picot I, Augé F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP, Jinnah HA. Ceballos-Picot I, et al. Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8. Mol Genet Metab. 2013. PMID: 24075303 Free PMC article.

8

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group. Fu R, et al. Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22. Brain. 2014. PMID: 23975452 Free PMC article. Review.

9

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA. Sampat R, et al. Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981450 Free PMC article.

10

Attenuated variants of Lesch-Nyhan disease.

Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.

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