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Ptosis in Pompe disease: common genetic background in infantile and adult series.

作者信息

Ravaglia Sabrina, Bini Paola, Garaghani Kolsoum Saeidi, Danesino Cesare

出版信息

J Neuroophthalmol. 2010 Dec;30(4):389-90. doi: 10.1097/WNO.0b013e3181f9a923.

DOI:10.1097/WNO.0b013e3181f9a923
PMID:21107130
Abstract
摘要

相似文献

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When should we start enzyme replacement therapy for infantile Pompe disease with severe cardiomyopathy?对于患有严重心肌病的婴儿型庞贝病,我们应该何时开始酶替代疗法?
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引用本文的文献

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Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.遗传性代谢疾病的临床和生化特征。VII. 眼部表型。
Mol Genet Metab. 2022 Apr;135(4):311-319. doi: 10.1016/j.ymgme.2022.02.002. Epub 2022 Feb 15.
2
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.儿童庞贝病:31例患者的临床谱和基因型
Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.
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Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
庞贝病中的小纤维神经病变:首例报告病例及临床队列的前瞻性筛查
Am J Case Rep. 2015 Apr 3;16:196-201. doi: 10.12659/AJCR.893309.
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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.庞贝病成人疾病自然进展的临床特征和预测因素:一项全国范围的前瞻性观察研究。
Orphanet J Rare Dis. 2012 Nov 12;7:88. doi: 10.1186/1750-1172-7-88.