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Mucopolysaccharidoses Diagnosis in the Era of Enzyme Replacement Therapy in Egypt

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source: Heliyon

year: 2021

authors: Fateen E,Abdallah ZY,Nazim WS,Ibrahim M,Radwan A


Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed for accurate diagnosis. The objectives of this work were: first, to continue the study of mucopolysacchardoses disease in Egypt after the start of using the enzyme replacement therapy (ERT). Second, to define the commonest types among our population after 18 years experience with the disease. Third, to compare the different MPS types’ distribution, diagnosed after the start of the ERT, to identify the impact of using ERT on the number and type of diagnosed patients.

organization: Biochemical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12622, Egypt.

DOI: 10.1016/j.heliyon.2021.e07830

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