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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. Among authors: puig jg. 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.
Clinical utility gene card for: Lesch-Nyhan syndrome.
Torres RJ, Puig JG, Ceballos-Picot I. Torres RJ, et al. Among authors: puig jg. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.109. Epub 2010 Jul 21. Eur J Hum Genet. 2011. PMID: 20648055 Free PMC article. No abstract available.
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.
Torres RJ, Puig JG, Ceballos-Picot I. Torres RJ, et al. Among authors: puig jg. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.304. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321622 Free PMC article. No abstract available.
184 results