| 1. |
中國法布雷病專家協作組. 中國法布雷病診療專家共識(2021 年版). 中華內科雜志, 2021, 60(4): 321-330.
|
| 2. |
Politei JM, Bouhassira D, Germain DP, et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment. CNS Neurosci Ther, 2016, 22(7): 568-576.
|
| 3. |
Bothou C, Beuschlein F, Nowak A. Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study. Endocrine, 2022, 75(3): 728-739.
|
| 4. |
Morrissey RP, Philip KJ, Schwarz ER. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovasc J Afr, 2011, 22(1): 38-44.
|
| 5. |
Linhart A, Pale?ek T. Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations. Cardiovasc Diagn Ther, 2021, 11(2): 650-660.
|
| 6. |
Mahmud HM. Fabry’s disease-a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc, 2014, 64(2): 189-194.
|
| 7. |
Svarstad E, Marti HP. The changing landscape of Fabry disease. Clin J Am Soc Nephrol, 2020, 15(4): 569-576.
|
| 8. |
Rodríguez-Marí A, Coll MJ, Chabás A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat, 2003, 22(3): 258.
|
| 9. |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
|
| 10. |
Simonetta I, Tuttolomondo A, Daidone M, et al. Treatment of Anderson-Fabry disease. Curr Pharm Des, 2020, 26(40): 5089-5099.
|
