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• W2084103627 abstract "Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential diagnosis of every case of cardiomyopathy presenting during the first year of life." @default.
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• W2084103627 date "2014-01-01" @default.
• W2084103627 modified "2023-10-01" @default.
• W2084103627 title "Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report" @default.
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• W2084103627 doi "https://doi.org/10.1016/j.ymgmr.2014.09.003" @default.
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