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Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C, Glamuzina E, Ruygrok P, Anderson LJ, Elliott P, Watkinson O, Occleshaw C, Abernathy M, Turner C, Kingston N, Murphy E, Oldfors A. Hedberg-Oldfors C, et al. Among authors: anderson lj. J Inherit Metab Dis. 2017 Jan;40(1):139-149. doi: 10.1007/s10545-016-9978-1. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718144 Free PMC article.
Cardiac transthyretin amyloidosis.
Dungu JN, Anderson LJ, Whelan CJ, Hawkins PN. Dungu JN, et al. Among authors: anderson lj. Heart. 2012 Nov;98(21):1546-54. doi: 10.1136/heartjnl-2012-301924. Epub 2012 Aug 11. Heart. 2012. PMID: 22888163 Review.
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
Muggenthaler M, Petropoulou E, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y. Muggenthaler M, et al. Among authors: anderson lj. Int J Cardiol. 2016 May 1;210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13. Int J Cardiol. 2016. PMID: 26922712 Free article. No abstract available.
550 results