Page 43 - Read Online
P. 43

Page 10 of 12            Politei et al. Rare Dis Orphan Drugs J 2024;3:10  https://dx.doi.org/10.20517/rdodj.2023.46

               Availability of data and materials
               Not Applicable


               Financial support and sponsorship
               None.


               Conflicts of interest
               Both authors declared that there are no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.


               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2024.

               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
   38   39   40   41   42   43   44   45   46   47   48