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Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: steiner rd. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. Shapiro EG, et al. Among authors: steiner rd. Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8. doi: 10.1016/j.ymgme.2015.06.002. Epub 2015 Jun 17. Mol Genet Metab. 2015. PMID: 26095521 Free PMC article. Clinical Trial.
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke JT, Steiner RD, Beck M, Barshop BA, Rhead W, West M, Martin R, Amato D, Nair N, Huertas P. Schiffmann R, et al. Among authors: steiner rd. Genet Med. 2013 Dec;15(12):983-9. doi: 10.1038/gim.2013.56. Epub 2013 May 16. Genet Med. 2013. PMID: 23680766 Free article. Clinical Trial.
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.
Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR. Whitley CB, et al. Among authors: steiner rd. Mol Genet Metab. 2009 Feb;96(2):S3-5. doi: 10.1016/j.ymgme.2008.11.162. Epub 2008 Dec 10. Mol Genet Metab. 2009. PMID: 19083251 No abstract available.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: steiner rd. Genet Med. 2024 May 14:101164. doi: 10.1016/j.gim.2024.101164. Online ahead of print. Genet Med. 2024. PMID: 38757444 Free article.
191 results