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Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.
Zeissig S, Dougan SK, Barral DC, Junker Y, Chen Z, Kaser A, Ho M, Mandel H, McIntyre A, Kennedy SM, Painter GF, Veerapen N, Besra GS, Cerundolo V, Yue S, Beladi S, Behar SM, Chen X, Gumperz JE, Breckpot K, Raper A, Baer A, Exley MA, Hegele RA, Cuchel M, Rader DJ, Davidson NO, Blumberg RS. Zeissig S, et al. Among authors: mcintyre a. J Clin Invest. 2010 Aug;120(8):2889-99. doi: 10.1172/JCI42703. Epub 2010 Jul 1. J Clin Invest. 2010. PMID: 20592474 Free PMC article.
Familial partial lipodystrophy presenting as metabolic syndrome.
Chan D, McIntyre AD, Hegele RA, Don-Wauchope AC. Chan D, et al. Among authors: mcintyre ad. J Clin Lipidol. 2016 Nov-Dec;10(6):1488-1491. doi: 10.1016/j.jacl.2016.08.012. Epub 2016 Sep 1. J Clin Lipidol. 2016. PMID: 27919367
A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
Ueda M, Dunbar RL, Wolska A, Sikora TU, Escobar MDR, Seliktar N, deGoma E, DerOhannessian S, Morrell L, McIntyre AD, Burke F, Sviridov D, Amar M, Shamburek RD, Freeman L, Hegele RA, Remaley AT, Rader DJ. Ueda M, et al. Among authors: mcintyre ad. J Clin Endocrinol Metab. 2017 May 1;102(5):1454-1457. doi: 10.1210/jc.2016-3903. J Clin Endocrinol Metab. 2017. PMID: 28201738 Free PMC article.
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Volkening K, Farhan SMK, Kao J, Leystra-Lantz C, Ang LC, McIntyre A, Wang J, Hegele RA, Strong MJ. Volkening K, et al. Among authors: mcintyre a. Mol Cell Biochem. 2021 Jul;476(7):2633-2650. doi: 10.1007/s11010-021-04103-7. Epub 2021 Mar 4. Mol Cell Biochem. 2021. PMID: 33661429 Free PMC article.
660 results