| 1. |
Germain DP, Altarescu G, Barriales-Villa R, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab, 2022, 137(1/2): 49-61.
|
| 2. |
Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol, 2017, 28(5): 1631-1641.
|
| 3. |
Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) controversies conference. Kidney Int, 2017, 91(2): 284-293.
|
| 4. |
Nowicki M, Bazan-Socha S, B?a?ejewska-Hyzorek B, et al. Enzyme replacement therapy in Fabry disease in Poland: a position statement. Pol Arch Intern Med, 2020, 130(1): 91-97.
|
| 5. |
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.
|
| 6. |
Cho EB, Kim SJ, Yang TW, et al. Generalized anhidrosis with preganglionic sudomotor dysfunction in Fabry disease: a case report. Clin Auton Res, 2021, 31(4): 585-587.
|
| 7. |
Franques J, Sahuc P, Dussol B, et al. Peripheral nerve involvement in Fabry’s disease: which investigations? A case series and review of the literature. Rev Neurol (Paris), 2017, 173(10): 650-657.
|
| 8. |
Biegstraaten M, Linthorst GE, van Schaik IN, et al. Fabry disease: a rare cause of neuropathic pain. Curr Pain Headache Rep, 2013, 17(10): 365.
|
| 9. |
Baishya J, Kesav P, Nampoothiri S, et al. Extensive extrapulvinar calcification in Fabry disease. Ann Indian Acad Neurol, 2018, 21(4): 309-310.
|
| 10. |
Yektay Farahmand M, Wasselius J, Englund E, et al. Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants. Neurol Neurochir Pol, 2024, 58(1): 94-105.
|
| 11. |
Li M, Fu Q, Xiang L, et al. SLC20A2-associated Idiopathic basal ganglia calcification (Fahr disease): a case family report. BMC Neurol, 2022, 22(1): 438.
|
| 12. |
Yao XP, Wang C, Su HZ, et al. Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. Gene, 2016: S0378-1119(16)30826-5.
|
| 13. |
Alrashidi FS. Basal ganglia calcifications for nephrologists: Fahr/primary familial brain calcification (PFBC) at the interface of chronic kidney disease-mineral and bone disorder (CKD-MBD) and hypoparathyroidism. Cureus, 2025, 17(12): e99031.
|
| 14. |
Johnson JW, Baradaran H, Morgan J, et al. The insidious degeneration of white matter and cognitive decline in Fabry disease. PLoS One, 2025, 20(11): e0325403.
|
| 15. |
Ulivi L, Kanber B, Prados F, et al. White matter integrity correlates with cognition and disease severity in Fabry disease. Brain, 2020, 143(11): 3331-3342.
|
| 16. |
Bolsover FE, Murphy E, Cipolotti L, et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis, 2014, 37(2): 177-187.
|
| 17. |
Mufaddel AA, Al-Hassani GA. Familial idiopathic basal ganglia calcification (Fahr’s disease). Neurosciences (Riyadh), 2014, 19(3): 171-177.
|
| 18. |
Donzuso G, Mostile G, Nicoletti A, et al. Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features. Neurol Sci, 2019, 40(11): 2251-2263.
|
| 19. |
劉笑雨, 楊帆, 吳靜, 等. 以糖尿病酮癥為首發表現的克氏綜合征1例并文獻分析. 數理醫藥學雜志, 2026, 39(4): 314-318.
|
