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Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Kim HJ, et al. Among authors: kim sh, kim bj, kim jw. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.
Evaluation of the transfusion safety of blood products and determination of plasma concentrations of acitretin and etretinate in patients receiving transfusions.
Park HD, Kim HK, Kim JW, Kim DW, Lee JH, Huh W, Youn JI, Kim HG, Kim YG, Kim MH, Lee SY. Park HD, et al. Among authors: kim hg, kim hk, kim dw, kim mh, kim jw, kim yg. Transfusion. 2008 Nov;48(11):2395-400. doi: 10.1111/j.1537-2995.2008.01850.x. Epub 2008 Jul 22. Transfusion. 2008. PMID: 18657077
8,723 results