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Amedeo Smart

Independent Medical Education


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Minatogawa M, Hirose T, Mizumoto S, Yamaguchi T, et al. Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient. Hum Mutat 2022;43:1829-1836.
PMID: 35842784


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