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REFERENCES
1. Desnick R, Ioannou Y, Eng C. Alpha-galactosidase a deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors.
The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. pp. 3733-74. DOI
2. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI PubMed PMC
3. Wilcox WR, Oliveira JP, Hopkin RJ, et al; Fabry Registry. Females with Fabry disease frequently have major organ involvement:
lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28. DOI PubMed
4. Lenders M, Brand E. Fabry disease - a multisystemic disease with gastrointestinal manifestations. Gut Microbes 2022;14:2027852.
DOI PubMed PMC
5. Zar-Kessler C, Karaa A, Sims KB, Clarke V, Kuo B. Understanding the gastrointestinal manifestations of Fabry disease: promoting
prompt diagnosis. Therap Adv Gastroenterol 2016;9:626-34. DOI PubMed PMC
6. Keshav S. Chapter 28 gastrointestinal manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry
disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis. 2006. Avaliable from: https://www.ncbi.nlm.nih.gov/
books/NBK11570/ [Last accessed on 25 Mar 2024].
7. Friedman LS, Kirkham SE, Thistlethwaite JR, Platika D, Kolodny EH, Schuffler MD. Jejunal diverticulosis with perforation as a
complication of Fabry’s disease. Gastroenterology 1984;86:558-63. PubMed
8. Jack CI, Morris AI, Nasmyth DG, Carroll N. Colonic involvement in Fabry’s disease. Postgrad Med J 1991;67:584-5. DOI PubMed
PMC
9. Buda P, Wieteska-klimczak A, Ksiazyk J, et al. Gastrointestinal phenotype of Fabry disease in a patient with pseudoobstruction
syndrome. JIMD Rep 2012;4:25-8. DOI PubMed PMC
10. Politei J, Thurberg BL, Wallace E, et al. Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin Genet
2016;89:5-9. DOI PubMed
11. Politei J, Durand C, Schenone AB, Torres A, Mukdsi J, Thurberg BL. Chronic intestinal pseudo-obstruction. Did you search for
lysosomal storage diseases? Mol Genet Metab Rep 2017;11:8-11. DOI PubMed PMC
12. Hilz MJ, Arbustini E, Dagna L, et al. Non-specific gastrointestinal features: could it be Fabry disease? Dig Liver Dis 2018;50:429-37.
DOI
13. Ramaswami U, Whybra C, Parini R, et al; FOS European Investigators. Clinical manifestations of Fabry disease in children: data from
the Fabry outcome survey. Acta Paediatr 2006;95:86-92. DOI
14. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of
Fabry disease in females in the Fabry outcome survey. J Med Genet 2006;43:347-52. DOI PubMed PMC
15. Laney DA, Peck DS, Atherton AM, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med
2015;17:323-30. DOI
16. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98
hemizygous males. J Med Genet 2001;38:750-60. DOI PubMed PMC
17. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60
obligate carrier females. J Med Genet 2001;38:769-75. DOI PubMed PMC
18. Di Toro A, Narula N, Giuliani L, et al. Pathologic substrate of gastropathy in Anderson-Fabry disease. Orphanet J Rare Dis
2020;15:156. DOI PubMed PMC