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High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system.
Kim KH, Dodsworth C, Paras A, Burton BK. Kim KH, et al. Among authors: burton bk. Mol Genet Metab. 2013 Aug;109(4):382-5. doi: 10.1016/j.ymgme.2013.06.012. Epub 2013 Jun 21. Mol Genet Metab. 2013. PMID: 23845234
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. Stern D, et al. Among authors: burton bk. Clin Genet. 2017 Aug;92(2):221-223. doi: 10.1111/cge.12956. Epub 2017 Jan 23. Clin Genet. 2017. PMID: 28111752 Free PMC article.
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
Kishnani PS, Dickson PI, Muldowney L, Lee JJ, Rosenberg A, Abichandani R, Bluestone JA, Burton BK, Dewey M, Freitas A, Gavin D, Griebel D, Hogan M, Holland S, Tanpaiboon P, Turka LA, Utz JJ, Wang YM, Whitley CB, Kazi ZB, Pariser AR. Kishnani PS, et al. Among authors: burton bk. Mol Genet Metab. 2016 Feb;117(2):66-83. doi: 10.1016/j.ymgme.2015.11.001. Epub 2015 Nov 10. Mol Genet Metab. 2016. PMID: 26597321 Review.
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C. Harmatz PR, et al. Among authors: burton bk. Am J Med Genet A. 2017 Feb;173(2):375-383. doi: 10.1002/ajmg.a.38014. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774754 Free PMC article. Clinical Trial.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: burton bk. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: burton bk. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF. Opladen T, et al. Among authors: burton bk. Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14. Mol Genet Metab. 2016. PMID: 26597322
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C. Harmatz P, et al. Among authors: burton bk. Mol Genet Metab. 2013 May;109(1):54-61. doi: 10.1016/j.ymgme.2013.01.021. Epub 2013 Feb 9. Mol Genet Metab. 2013. PMID: 23452954
A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.
Burton BK, Leviton L, Vespa H, Coon H, Longo N, Lundy BD, Johnson M, Angelino A, Hamosh A, Bilder D. Burton BK, et al. Mol Genet Metab. 2013 Jan;108(1):8-12. doi: 10.1016/j.ymgme.2012.11.003. Epub 2012 Nov 15. Mol Genet Metab. 2013. PMID: 23266195
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