Page 34 - Read Online

Page 14 of 16 Moreno-Martínez et al. Rare Dis Orphan Drugs J 2024;3:9 https://dx.doi.org/10.20517/rdodj.2023.51

65. MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit
Metab Dis 2001;24:13-4. DOI PubMed
66. Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry
disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine 2005;84:261-8. DOI PubMed
67. Mehta A, Ginsberg L; FOS Investigators. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl
2005;94:24-7. DOI PubMed
68. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS - the Fabry Outcome Survey. In: Mehta A, Beck M,
Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 23.
PubMed
69. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other
clinical events: natural history data from the Fabry Registry. Stroke 2009;40:788-94. DOI PubMed
70. Vijapurapu R, Roy A, Demetriades P, et al. Systematic review of the incidence and clinical risk predictors of atrial fibrillation and
permanent pacemaker implantation for bradycardia in Fabry disease. Open Heart 2023;10:e002316. DOI PubMed PMC
71. Chugh SS, Havmoeller R, Narayanan K, et al. Worldwide epidemiology of atrial fibrillation: a Global Burden of Disease 2010 Study.
Circulation 2014;129:837-47. DOI PubMed PMC
72. Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet
2005;366:1794-6. DOI PubMed
73. Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry disease in stroke patients - a systematic review and meta-
analysis. J Stroke Cerebrovasc Dis 2014;23:985-92. DOI PubMed
74. Marquardt L, Baker R, Segal H, et al. Fabry disease in unselected patients with TIA or stroke: population-based study. Eur J Neurol
2012;19:1427-32. DOI PubMed
75. Reisin RC, Mazziotti J, Cejas LL, et al; AISYF Investigators. Prevalence of Fabry disease in young patients with stroke in Argentina.
J Stroke Cerebrovasc Dis 2018;27:575-82. DOI PubMed
76. Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry Disease: prevalence of affected males and heterozygotes
with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet 2018;55:261-8.
DOI PubMed
77. Härtl J, Hartberger J, Wunderlich S, et al; Regeneron Genetics Center. Exome-based gene panel analysis in a cohort of acute juvenile
ischemic stroke patients:relevance of NOTCH3 and GLA variants. J Neurol 2023;270:1501-11. DOI PubMed PMC
78. Palaiodimou L, Stefanou MI, Bakola E, et al. D313Y variant in Fabry disease: a systematic review and meta-analysis. Neurology
2022;99:e2188-200. DOI PubMed
79. Low M, Nicholls K, Tubridy N, et al. Neurology of Fabry disease. Intern Med J 2007;37:436-47. DOI PubMed
80. Kono Y, Wakabayashi T, Kobayashi M, et al. Characteristics of cerebral microbleeds in patients with Fabry disease. J Stroke
Cerebrovasc Dis 2016;25:1320-5. DOI PubMed
81. Cocozza S, Russo C, Pontillo G, Pisani A, Brunetti A. Neuroimaging in Fabry disease: current knowledge and future directions.
Insights Imaging 2018;9:1077-88. DOI PubMed PMC
82. Reisin RC, Romero C, Marchesoni C, et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci 2011;305:41-4. DOI
PubMed
83. Brooks JBB, Fragoso YD. Neurological manifestations in Fabry disease. Neuroimmunol Neuroinflammation 2016;3:228. DOI
84. Fellgiebel A, Müller MJ, Mazanek M, Baron K, Beck M, Stoeter P. White matter lesion severity in male and female patients with
Fabry disease. Neurology 2005;65:600-2. DOI PubMed
85. Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and
biochemical correlation. Ann Neurol 1988;23:505-9. DOI PubMed
86. Marchesoni C, Cisneros E, Pfister P, et al. Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci
2018;395:131-4. DOI PubMed
87. Shribman SE, Shah AR, Werring DJ, Cockerell OC. Fabry disease mimicking multiple sclerosis: lessons from two case reports. Mult
Scler Relat Disord 2015;4:170-5. DOI PubMed
88. Rath J, Foesleitner O, Haider L, et al. Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and
Fabry disease. Orphanet J Rare Dis 2022;17:37. DOI PubMed PMC
89. Cocozza S, Olivo G, Riccio E, et al. Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple
Sclerosis. Neuroradiology 2017;59:563-70. DOI PubMed
90. Böttcher T, Rolfs A, Tanislav C, et al. Fabry disease - underestimated in the differential diagnosis of multiple sclerosis? PLoS One
2013;8:e71894. DOI PubMed PMC
91. Lyndon D, Davagnanam I, Wilson D, et al. MRI-visible perivascular spaces as an imaging biomarker in Fabry disease. J Neurol
2021;268:872-8. DOI PubMed PMC
92. Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR
imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003;24:1096-101. PubMed PMC
93. Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. T1 hyperintensity in the pulvinar: key imaging feature for
diagnosis of Fabry disease. AJNR Am J Neuroradiol 2003;24:916-21. PubMed PMC
94. Burlina AP, Manara R, Caillaud C, et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol