Associated Papers
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.
Mizumoto S et al.
Genes, 2023
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
The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.
Mizumoto S et al.
International Journal of Molecular Sciences, 2022
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
Ullah I et al.
Congenital Anomalies, 2021
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
Schirwani S et al.
European Journal of Medical Genetics, 2020
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