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  • Enzyme

Enzyme

ASB
https://enzyme.expasy.org/EC/3.1.6.12

Catalog IDDescriptionPercent Normal ActivitySpecimen AssayedRemark
GM00519MUCOPOLYSACCHARIDOSIS TYPE VI  Jin et al (Am J Hum Genet 50:795-800 1992) reported that this Mucopolysaccharidosis type VI patient had deficient ASB enzyme activity and was negative for ASB mutations C117R and L236P.
GM00538MUCOPOLYSACCHARIDOSIS TYPE VI  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM01022MUCOPOLYSACCHARIDOSIS TYPE VI0lymphoblastsTempesta et al (Clin Chim Acta 202:149-166 1991) reported that this lymphoblast culture established from a patient with Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI) had virtually no arylsulfatase B activity.
GM02572MUCOPOLYSACCHARIDOSIS TYPE VI  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM02849MUCOPOLYSACCHARIDOSIS TYPE VI  According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03245MULTIPLE SULFATASE DEFICIENCY fibroblasts/WBCsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03246MULTIPLE SULFATASE DEFICIENCY leukocytesAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03246MULTIPLE SULFATASE DEFICIENCY lymphoblastsTempesta et al (Clin Chim Acta 202:149-166 1991) reported that this lymphoblast culture established from a patient with multiple sulfatase deficiency had dramatically reduced levels of cerebroside sulfatase arylsufatase A arylsulfatase B and steroid sulfatase.
GM03722MUCOPOLYSACCHARIDOSIS TYPE VI5 According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03723MUCOPOLYSACCHARIDOSIS TYPE VI5 According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM04916MULTIPLE SULFATASE DEFICIENCY lymphoblastsTempesta et al (Clin Chim Acta 202:149-166 1991) reported that this lymphoblast culture established from a patient with multiple sulfatase deficiency had dramatically reduced levels of cerebroside sulfatase arylsulfatase A arylsulfatase B and steroid sulfatase.
GM05358MUCOPOLYSACCHARIDOSIS TYPE VI fibroblasts/leukocytesAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM06327MUCOPOLYSACCHARIDOSIS TYPE VI fibroblastsAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM06328MUCOPOLYSACCHARIDOSIS TYPE VI63 According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM06329MUCOPOLYSACCHARIDOSIS TYPE VI73 According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM12370MUCOPOLYSACCHARIDOSIS TYPE VI12fibroblastAccording to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM12659MULTIPLE SULFATASE DEFICIENCY<10 According to the submitter, biochemical test results for this subject showed decreased enzyme activity.

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