Associated Papers
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.
Minatogawa M et al.
Human Mutation, 2022
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Lautrup CK et al.
Molecular Genetics & Genomic Medicine, 2020
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
Schirwani S et al.
European Journal of Medical Genetics, 2020
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