Nonfatal Isolated Cardiac Nonlysosomal Glycogenosis: A Rare Cause of Infantile Hypertrophic Cardiomyopathy.
作者信息
Deshaies Catherine, Sett Suvro, Penney Lynette, Dhillon Santokh
机构信息
Division of Cardiac Surgery, Department of Surgery, Izaak Walton Killam Health Center, Dalhousie University, Halifax, Nova Scotia, Canada.
Division of Medical Genetics, Department of Pediatrics, Izaak Walton Killam Health Center, Dalhousie University, Halifax, Nova Scotia, Canada.
出版信息
CJC Pediatr Congenit Heart Dis. 2024 Feb 27;3(4):178-181. doi: 10.1016/j.cjcpc.2024.02.003. eCollection 2024 Aug.
Abstract
摘要
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本文引用的文献
1
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
J Am Coll Cardiol. 2018 Nov 13;72(20):2485-2506. doi: 10.1016/j.jacc.2018.08.2182.
2
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
Can J Neurol Sci. 2016 Jul;43(4):472-85. doi: 10.1017/cjn.2016.37. Epub 2016 Apr 8.
3
Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.
Circulation. 2007 Feb 13;115(6):773-81. doi: 10.1161/CIRCULATIONAHA.106.621185. Epub 2007 Jan 29.
4
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
5
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
N Engl J Med. 2005 Jan 27;352(4):362-72. doi: 10.1056/NEJMoa033349.
6
The incidence of pediatric cardiomyopathy in two regions of the United States.
N Engl J Med. 2003 Apr 24;348(17):1647-55. doi: 10.1056/NEJMoa021715.
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