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Lysosomal storage diseases (LSDs) are a rare distinct group of disorders with complex diagnosis and limited epidemiology data, such as Pompe disease. In recognition of International Pompe Day, marked on April 15, we created the below infographic to provide some insight into epidemiology and present an overview of current treatment options.

 

 

References:
[1] Schuchman, E. H., & Wasserstein, M. P. (2017). Lysosomal Storage Diseases: Perspectives and Principles. In Hematology: Basic Principles and Practice (pp. 740-746). Elsevier Inc..
[2] Platt, F. M., Boland, B., & van der Spoel, A. C. (2012). The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. The Journal of cell biology, 199(5), 723–734.
[3] Giugliani, R., Federhen, A., Michelin-Tirelli, K., Riegel, M., & Burin, M. (2017). Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory. Genetics and molecular biology, 40(1), 31–39.
[4] Mokhtariye, A., Hagh-Nazari, L., Varasteh, A. R., & Keyfi, F. (2019). Diagnostic methods for Lysosomal Storage Disease. Reports of biochemistry & molecular biology, 7(2), 119–128.
[5] National Health Service (April 2019) Lysosomal storage disorders; Available from: https://www.uhb.nhs.uk/lysosomal-storage-disorders.htm [Accessed April 2019]
[6] National Organization for Rare Disorders (2017) Mucopolysaccharidoses; Available from:  https://rarediseases.org/rare-diseases/mucopolysaccharidoses/ [Accessed April 2019]
[7] Nalysnyk, L., Rotella, P., Simeone, J. C., Hamed, A., & Weinreb, N. (2017). Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology, 22(2), 65-73.
[8] Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., … Tomatsu, S. (2017). Epidemiology of mucopolysaccharidoses. Molecular genetics and metabolism, 121(3), 227–240.
[9] Leslie, N., & Bailey, L. (2017). Pompe disease. In GeneReviews®[Internet]. University of Washington, Seattle.
[10] Platt, F. M., & Lachmann, R. H. (2009). Treating lysosomal storage disorders: current practice and future prospects. Biochimica et Biophysica Acta (BBA)-Molecular Cell Research, 1793(4), 737-745.
[11] Beck, M. (2018). Treatment strategies for lysosomal storage disorders. Developmental Medicine & Child Neurology, 60(1), 13-18.
[12] Rastall, D. P., & Amalfitano, A. (2017). Current and future treatments for lysosomal storage disorders. Current treatment options in neurology, 19(12), 45.


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