INT116728
From wiki-pain
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
Inhibition of steroid sulfatase activity in endometriotic implants by STX64 (667Coumate): a potential new therapy. | |||||||||||||||
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Absent or low 12S activity in males is diagnostic of Hunter syndrome, provided other sulfatase deficiency has been ruled out. | |||||||||||||||
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Recessive X-linked ichthyosis is due to a deficiency of cholesterol sulfatase. | |||||||||||||||
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In either NC or DC group, no prominent peak corresponding to quercetin aglycone appeared in the chromatogram of the extract from rat plasma treated with sulfatase H-5, which possesses both sulfatase activity and glucuronidase activity. | |||||||||||||||
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The radiological findings that are characteristic of MPS VI, other MPS, mucolipidoses (ML II I-Cell disease/Leroy, ML III (pseudo-Hurler polydystrophy) and other storage diseases (multiple sulfatase deficiency, carbohydrate-deficient glycoprotein syndrome, GM I gangliosidosis and geleophysic dysplasia) are given the term "dysostosis multiplex". | |||||||||||||||
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In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. | |||||||||||||||
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Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). | |||||||||||||||
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Without this modification, sulfatase activity is impaired and the enzymes are therefore unable to degrade lysosomal contents. | |||||||||||||||
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Without this modification, sulfatase activity is impaired and the enzymes are therefore unable to degrade lysosomal contents. | |||||||||||||||
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General Comments
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