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ß-d-glucuronidase deficiency

 

Definition: a rare deficiency of ß-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterized by abnormal mucopolysaccharide metabolism leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex.

Synonym(s): mucopolysaccharidase

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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