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• W2078082152 abstract "SummaryA new case of Japanese patient with Multiple Sulfatase Deficiency (MSD) was subjected for the study of metabolism of various sulfated compounds in vivo using cultured skin fibroblasts. Several sulfatase activities (arylsulfatase A, B and C, cholesterol sulfatase) were deficient in MSD cultured fibroblasts under F-10-CO2 medium. Incorporation and degradation of 35S-sulfatide, 35S-mucopolysaccharides and 14C-cholesterol sulfate by MSD cells were also studied, comparing to those of control, Hunter and Metachromatic leukodytrophy's cells. MSD fibroblasts accumulated and failed to degrade these compounds in vivo. Cholesterol sulfate also incorporated into control and pathological cells, and MSD cells were not able to hydrolyze cholesterol sulfate, though cholesterol sulfate is known to be hydrolyzed in non-lysosomal subfraction. These data are consistent with the foct that multiple enzyme deficiencies in MSD fibroblasts were also demonstrated in vivo." @default.
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• W2078082152 date "1981-09-01" @default.
• W2078082152 modified "2023-09-27" @default.
• W2078082152 title "Impairment of Sulfatide, Acid Mucopolysaccharides and Cholesterol Sulfate Degradation in Cultured Skin Fibroblasts of Patients with Multiple Sulfatase Deficiency (Mukosulfatidosis)" @default.
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• W2078082152 doi "https://doi.org/10.1111/j.1442-200x.1981.tb01254.x" @default.
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