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Page 26 of 29 Aguiar. Rare Dis Orphan Drugs J 2024;3:13 https://dx.doi.org/10.20517/rdodj.2023.56

159. Camporeale A, Pieroni M, Pieruzzi F, et al. Predictors of clinical evolution in prehypertrophic Fabry disease. Circ Cardiovasc
Imaging 2019;12:e008424. DOI
160. Imbriaco M, Nappi C, Ponsiglione A, et al. Hybrid positron emission tomography-magnetic resonance imaging for assessing different
stages of cardiac impairment in patients with Anderson-Fabry disease: AFFINITY study group. Eur Heart J Cardiovasc Imaging
2019;20:1004-11. DOI
161. Spinelli L, Imbriaco M, Nappi C, et al. Early Cardiac involvement affects left ventricular longitudinal function in females carrying α-
galactosidase a mutation: role of hybrid positron emission tomography and magnetic resonance imaging and speckle-tracking
echocardiography. Circ Cardiovasc Imaging 2018;11:e007019. DOI PubMed
162. Haga T, Okumura T, Isobe S, et al. Potential prognostic implications of myocardial thallium-201 and iodine-123-beta-
methylpentadecanoic acid dual scintigraphy in patients with Anderson-Fabry disease. Ann Nucl Med 2019;33:930-6. DOI
163. Imbriaco M, Pellegrino T, Piscopo V, et al. Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with
Anderson-Fabry disease. Eur J Nucl Med Mol Imaging 2017;44:2266-73. DOI
164. Yamamoto S, Suzuki H, Sugimura K, et al. Focal reduction in cardiac 123 I-metaiodobenzylguanidine uptake in patients with
Anderson-Fabry disease. Circ J 2016;80:2550-1. DOI
165. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D. A more accurate method to estimate glomerular filtration rate from
serum creatinine: a new prediction equation. Modification of diet in renal disease study group. Ann Intern Med 1999;130:461-70.
DOI
166. Levey AS, Stevens LA, Schmid CH, et al. A new equation to estimate glomerular filtration rate. Ann Intern Med 2009;150:604-12.
DOI PubMed PMC
167. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl 2013;3:1-
150. Available from: https://kdigo.org/wp-content/uploads/2017/02/KDIGO_2012_CKD_GL.pdf [Last accessed on 19 Apr 2024].
168. Waldek S, Feriozzi S. Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy? BMC Nephrol
2014;15:72. DOI PubMed PMC
169. Filler G, Bökenkamp A, Hofmann W, Le Bricon T, Martínez-Brú C, Grubb A. Cystatin C as a marker of GFR-history, indications,
and future research. Clin Biochem 2005;38:1-8. DOI PubMed
170. Hoek FJ, Kemperman FA, Krediet RT. A comparison between cystatin C, plasma creatinine and the Cockcroft and Gault formula for
the estimation of glomerular filtration rate. Nephrol Dial Transplant 2003;18:2024-31. DOI PubMed
171. Feriozzi S, Germain DP, Di Vito R, Legrand A, Ricci R, Barbey F. Cystatin C as a marker of early changes of renal function in Fabry
nephropathy. J Nephrol 2007;20:437-43. PubMed
172. Stevens LA, Coresh J, Schmid CH, et al. Estimating GFR using serum cystatin C alone and in combination with serum creatinine: a
pooled analysis of 3,418 individuals with CKD. Am J Kidney Dis 2008;51:395-406. DOI PubMed PMC
173. Rombach SM, Baas MC, ten Berge IJ, Krediet RT, Bemelman FJ, Hollak CE. The value of estimated GFR in comparison to
measured GFR for the assessment of renal function in adult patients with Fabry disease. Nephrol Dial Transplant 2010;25:2549-56.
DOI PubMed
174. Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry registry. Pediatr
Res 2008;64:550-5. DOI
175. Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry outcome survey.
Acta Paediatr 2006;95:86-92. DOI
176. Ries M, Gupta S, Moore DF, et al. Pediatric Fabry disease. Pediatrics 2005;115:e344-55. DOI
177. Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and
adolescents. Eur J Pediatr 2003;162:767-72. DOI
178. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry. Nephropathy in males and females with
Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant
2008;23:1600-7. DOI PubMed
179. Wanner C, Oliveira JP, Ortiz A, et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history
data from the Fabry registry. Clin J Am Soc Nephrol 2010;5:2220-8. DOI PubMed PMC
180. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med
2007;146:77-86. DOI
181. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney
Int 2006;69:1216-21. DOI PubMed
182. Feriozzi S, Torras J, Cybulla M, Nicholls K, Sunder-Plassmann G, West M; FOS Investigators. The effectiveness of long-term
agalsidase alfa therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 2012;7:60-9. DOI PubMed PMC
183. Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with
Fabry disease. J Med Genet 2015;52:353-8. DOI PubMed PMC
184. Warnock DG, Ortiz A, Mauer M, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing
of treatment initiation. Nephrol Dial Transplant 2012;27:1042-9. DOI PubMed PMC
185. West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009;20:1132-9.
DOI PubMed PMC
186. Moura AP, Hammerschmidt T, Deon M, Giugliani R, Vargas CR. Investigation of correlation of urinary globotriaosylceramide (Gb3)