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Guidance for the diagnosis and treatment of hypolipidemia disorders.
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N. Bredefeld C, et al. Among authors: burnett jr. J Clin Lipidol. 2022 Nov-Dec;16(6):797-812. doi: 10.1016/j.jacl.2022.08.009. Epub 2022 Sep 29. J Clin Lipidol. 2022. PMID: 36243606 Free article. Review.
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.
Burnett JR, Zhong S, Jiang ZG, Hooper AJ, Fisher EA, McLeod RS, Zhao Y, Barrett PH, Hegele RA, van Bockxmeer FM, Zhang H, Vance DE, McKnight CJ, Yao Z. Burnett JR, et al. J Biol Chem. 2007 Aug 17;282(33):24270-83. doi: 10.1074/jbc.M702442200. Epub 2007 Jun 22. J Biol Chem. 2007. PMID: 17588943 Free article.
Clinical utility gene card for: Abetalipoproteinaemia.
Burnett JR, Bell DA, Hooper AJ, Hegele RA. Burnett JR, et al. Eur J Hum Genet. 2012 Aug;20(8). doi: 10.1038/ejhg.2012.30. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378282 Free PMC article. No abstract available.
Clinical utility gene card for: Sitosterolaemia.
Hooper AJ, Bell DA, Hegele RA, Burnett JR. Hooper AJ, et al. Among authors: burnett jr. Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.187. Epub 2016 Dec 28. Eur J Hum Genet. 2017. PMID: 28029149 Free PMC article. No abstract available.
783 results