1 |
Ferraz MJ, Kallemeijn WW, Mirzaian M, et al. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses [J]. Biochim Biophys Acta, 2014, 1841(5): 811-825.
|
2 |
Nowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, et al. Enzyme replacement therapy in Fabry disease in Poland: a position statement [J]. Pol Arch Intern Med, 2020, 130(1): 91-97.
|
3 |
Hsu TR, Niu DM. Fabry disease: review and experience during newborn screening [J]. Trends Cardiovasc Med, 2018, 28(4): 274-281.
|
4 |
Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan [J]. Mol Genet Metab Rep, 2020, 22: 100562.
|
5 |
Germain DP. Fabry disease [J]. Orphanet J Rare Dis, 2010, 5: 30.
|
6 |
Schatzki PF, Kipreos B, Payne J. Fabry's disease. Primary diagnosis by electron microscopy [J]. Am J Surg Pathol, 1979, 3(3): 211-219.
|
7 |
deVeber GA, Schwarting GA, Kolodny EH, et al. Fabry disease: immunocytochemical characterization of neuronal involvement [J]. Ann Neurol, 1992, 31(4): 409-415.
|
8 |
Tuttolomondo A, Pecoraro R, Simonetta I, et al. Anderson-Fabry disease: a multiorgan disease [J]. Curr Pharm Des, 2013, 19(33): 5974-5996.
|
9 |
Park S, Kim JA, Joo KY, et al. Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease [J]. Cardiovasc Res, 2011, 89(2): 290-299.
|
10 |
Elleder M, Bradová V, Smíd F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy [J]. Virchows Arch A Pathol Anat Histopathol, 1990, 417(5): 449-455.
|
11 |
李小璇, 王璐, 张赟, 等. 表现为早发缺血性卒中的Fabry病二例 [J]. 中华神经科杂志, 2011, 44(8): 550-553.
|