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Moreno-Martínez et al. Rare Dis Orphan Drugs J 2024;3:9 https://dx.doi.org/10.20517/rdodj.2023.51 Page 15 of 16

2008;255:738-44. DOI PubMed
95. Cocozza S, Russo C, Pisani A, et al. Redefining the pulvinar sign in Fabry disease. AJNR Am J Neuroradiol 2017;38:2264-9. DOI
PubMed PMC
96. Manara R, Carlier RY, Righetto S, et al. Basilar artery changes in Fabry disease. AJNR Am J Neuroradiol 2017;38:531-6. DOI
PubMed PMC
97. Fazekas F, Enzinger C, Schmidt R, et al; SIFAP 1 Investigators. Brain magnetic resonance imaging findings fail to suspect Fabry
disease in young patients with an acute cerebrovascular event. Stroke 2015;46:1548-53. DOI PubMed
98. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol
Genet Metab 2018;123:416-27. DOI PubMed
99. Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry
disease in paediatric patients. Clin Genet 2019;96:107-17. DOI PubMed PMC
100. Pontillo G, Cocozza S, Brunetti A, et al. Reduced intracranial volume in Fabry disease: evidence of abnormal neurodevelopment?
Front Neurol 2018;9:672. DOI PubMed PMC
101. Paavilainen T, Lepomäki V, Saunavaara J, et al. Diffusion tensor imaging and brain volumetry in Fabry disease patients.
Neuroradiology 2013;55:551-8. DOI PubMed
102. Fellgiebel A, Mazanek M, Whybra C, et al. Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor
imaging study. J Neurol 2006;253:780-7. DOI PubMed
103. Tedeschi G, Bonavita S, Banerjee TK, Virta A, Schiffmann R. Diffuse central neuronal involvement in Fabry disease: a proton MRS
imaging study. Neurology 1999;52:1663-7. DOI PubMed
104. Gabusi I, Pontillo G, Petracca M, et al. Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI
study. Brain Commun 2022;4:fcac187. DOI PubMed PMC
105. Elstein D, Doniger GM, Altarescu G. Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool. Isr Med
Assoc J 2012;14:624-8. PubMed
106. Segal P, Kohn Y, Pollak Y, Altarescu G, Galili-Weisstub E, Raas-Rothschild A. Psychiatric and cognitive profile in Anderson-Fabry
patients: a preliminary study. J Inherit Metab Dis 2010;33:429-36. DOI PubMed
107. Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT. The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord
1997;8:252-7. DOI PubMed
108. Okeda R, Nisihara M. An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated
dementia. Neuropathology 2008;28:532-40. DOI PubMed
109. Loeb J, Feldt-rasmussen U, Madsen CV, Vogel A. Cognitive impairments and subjective cognitive complaints in Fabry disease: a
nationwide study and review of the literature. JIMD Rep 2018;41:73-80. DOI PubMed PMC
110. Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO. Cognitive and psychological functioning in
Fabry disease. Arch Clin Neuropsychol 2014;29:642-50. DOI PubMed PMC
111. Körver S, Geurtsen GJ, Hollak CEM, et al. Cognitive functioning and depressive symptoms in Fabry disease: a follow-up study. J
Inherit Metab Dis 2020;43:1070-81. DOI PubMed PMC
112. Anderson JF, Saling MM, Srikanth VK, Thrift AG, Donnan GA. Individuals with first-ever clinical presentation of a lacunar
infarction syndrome: Is there an increased likelihood of developing mild cognitive impairment in the first 12 months after stroke? J
Neuropsychol 2008;2:373-85. DOI PubMed
113. Lelieveld IM, Böttcher A, Hennermann JB, Beck M, Fellgiebel A. Eight-year follow-up of neuropsychiatric symptoms and brain
structural changes in Fabry disease. PLoS One 2015;10:e0137603. DOI PubMed PMC
114. Löhle M, Hughes D, Milligan A, et al. Clinical prodromes of neurodegeneration in Anderson-Fabry disease. Neurology
2015;84:1454-64. DOI PubMed PMC
115. Loret G, Miatton M, Vingerhoets G, Poppe B, Hemelsoet D. A long-term neuropsychological evaluation in Fabry disease. Acta
Neurol Belg 2021;121:191-7. DOI PubMed
116. Schermuly I, Müller MJ, Müller KM, et al. Neuropsychiatric symptoms and brain structural alterations in Fabry disease. Eur J Neurol
2011;18:347-53. DOI PubMed
117. Wadley VG, Mcclure LA, Warnock DG, et al. Cognitive function in adults aging with Fabry disease: a case - control feasibility study
using telephone-based assessments. JIMD Rep 2015;18:41-50. DOI PubMed PMC
118. Cociasu I, Sorbera C, Tuttolomondo A, Morgante F. Anderson-Fabry disease: a rare cause of levodopa-responsive early-onset
Parkinsonism. Mov Disord Clin Pract 2021;8:S32-4. DOI PubMed PMC
119. Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain.
J Neurol Neurosurg Psychiatry 1973;36:1053-62. DOI PubMed PMC
120. Zedde M, Pascarella R, Cavallieri F, et al. Anderson-Fabry disease: a new piece of the lysosomal puzzle in Parkinson disease?
Biomedicines 2022;10:3132. DOI PubMed PMC
121. Schiffmann R, Rapkiewicz A, Abu-Asab M, et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of
enzyme replacement. Virchows Arch 2006;448:337-43. DOI PubMed PMC
122. Ortiz A, Abiose A, Bichet DG, et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from
the Fabry Registry. J Med Genet 2016;53:495-502. DOI PubMed PMC
123. Sheng S, Wu L, Nalleballe K, et al. Fabry’s disease and stroke: Effectiveness of enzyme replacement therapy (ERT) in stroke