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Sanfillipo's syndrome


'Sanfillipo's syndrome' can also refer to...

 

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A storage disease in which the defect is in either keratan sulphate sulphatase or N-acetyl-α-d-glucosaminidase. Cocultured fibroblasts from apparently clinically identical patients can cross-complement if a different enzyme is missing in each.

Subjects: Medicine and Health.


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