Title : Phenotypic expression in mucopolysaccharidosis VII.

Pub. Date : 1987 Jun

PMID : 3112309






1 Functional Relationships(s)
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1 The phenotypic variation and the fact that increased levels of glycosaminoglycans were not found in the urine of the two patients lead to the suggestion that in certain cases a correct diagnosis may be missed if the beta-glucuronidase activity in plasma and leucocytes is not determined and only routine urine investigation is performed as a screening for a mucopolysaccharidosis. Glycosaminoglycans glucuronidase beta Homo sapiens