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Neonatal diagnosis and treatment of Menkes disease.
Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Kaler SG, et al. Among authors: tang j. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613. N Engl J Med. 2008. PMID: 18256395 Free PMC article.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Kennerson ML, et al. Among authors: tang j. Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170900 Free PMC article.
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