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multiple sulfatase deficiency

 

Definition: an inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues, causing disorders such as demyelination and facial and skeletal dysmorphism.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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