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Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III.

作者信息

Lee P, Burch M, Leonard J V

机构信息

Metabolic Disease Unit, Great Ormond Street Hospital for Children, London, UK.

出版信息

J Inherit Metab Dis. 1995;18(6):751-2. doi: 10.1007/BF02436768.

DOI:10.1007/BF02436768
PMID:8750616
Abstract
摘要

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.一个新型糖原贮积病 III 型突变为一个突尼斯家族的分子和生化特征
Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8.
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Cardiac Pathology in Glycogen Storage Disease Type III.Ⅲ型糖原贮积病的心脏病理学

本文引用的文献

1
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.努南综合征的心脏异常:118例患者的表型诊断及超声心动图评估
J Am Coll Cardiol. 1993 Oct;22(4):1189-92. doi: 10.1016/0735-1097(93)90436-5.
2
The hepatic glycogen storage diseases--problems beyond childhood.肝糖原贮积病——儿童期后的问题
J Inherit Metab Dis. 1995;18(4):462-72. doi: 10.1007/BF00710057.
3
Cardiac involvement in glycogen storage disease type III.糖原贮积病III型的心脏受累情况
JIMD Rep. 2012;6:65-72. doi: 10.1007/8904_2011_118. Epub 2012 Jan 31.
4
Characterization of a canine model of glycogen storage disease type IIIa.IIIa 型糖原贮积症犬模型的特征描述。
Dis Model Mech. 2012 Nov;5(6):804-11. doi: 10.1242/dmm.009712. Epub 2012 Jun 26.
5
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.糖原贮积病 III 型的超声心动图表现:随着时间的推移,壁厚度和左心室质量增加。
Genet Med. 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979.
6
Glycogen storage diseases: new perspectives.糖原贮积病:新观点
World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541.
7
Metabolic cardiomyopathies.代谢性心肌病
Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.
Eur J Pediatr. 1989 Aug;148(8):764-6. doi: 10.1007/BF00443106.
4
Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients.
Pediatr Cardiol. 1991 Jul;12(3):161-3. doi: 10.1007/BF02238523.
5
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.III型糖原贮积病(糖原脱支酶缺乏症):生化缺陷与肌病和心肌病的相关性
Ann Intern Med. 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896.