Phenotypic expression in mucopolysaccharidosis VII.

beta-glucuronidase deficiency is an extremely rare disorder which is known to have a considerable phenotypic variation. A survey of the clinical findings in 19 previously reported patients with mucopolysaccharidosis VII is presented together with the results of clinical and biochemical studies in tw...

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Main Authors: Bernsen, P L, Wevers, R A, Gabreëls, F J, Lamers, K J, Sonnen, A E, Stekhoven, J H
Format: Artigo
Sprog:Inglês
Udgivet: 1987
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1032073/
https://ncbi.nlm.nih.gov/pubmed/3112309
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