The mucopolysaccharidoses (a review).

Abstract:

:The mucopolysaccharidoses are a group of genetic diseases characterized by storage of incompletely degraded glycosaminoglycans. Such storage causes marked distortion of many tissues with consequent severe somatic changes and mental retardation. Storage of glycosaminoglycans results from markedly diminished activity of specific hydrolases requisite for the normal degradation of glycosaminoglycans. The specific enzymic defects have been identified in nine different diseases. In some cases evidence has been obtained indicating the existence of additional allelic diseases based on the same enzyme. The knowledge obtained from these studies has made prenatal diagnosis possible and has led to the possibility that therapy may be undertaken utilizing enzyme replacement.

authors

Dorfman A,Matalon R

doi

10.1073/pnas.73.2.630

subject

Has Abstract

pub_date

1976-02-01 00:00:00

pages

630-7

issue

2

eissn

0027-8424

issn

1091-6490

journal_volume

73

pub_type

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