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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Andresen BS, et al. Among authors: mccandless se. Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349232 Free PMC article.
Multiple muscle cell alterations in a case of encephalomyopathy.
Fujioka H, Tandler B, Rosca M, McCandless SE, Katirji B, Cohen ML, Rapisuwon S, Hoppel CL. Fujioka H, et al. Among authors: mccandless se. Ultrastruct Pathol. 2014 Feb;38(1):13-25. doi: 10.3109/01913123.2013.831158. Epub 2013 Oct 17. Ultrastruct Pathol. 2014. PMID: 24134831
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. Roof E, et al. Among authors: mccandless se. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1696-1708. doi: 10.1210/clinem/dgad015. J Clin Endocrinol Metab. 2023. PMID: 36633570 Free PMC article. Clinical Trial.
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. O'Reilly L, et al. Among authors: mccandless se. Eur J Biochem. 2004 Oct;271(20):4053-63. doi: 10.1111/j.1432-1033.2004.04343.x. Eur J Biochem. 2004. PMID: 15479234 Free article.
97 results