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[Genetic aspects of mucopolysaccharidoses].

Authors :
Lacombe D
Germain DP
Source :
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2014 Jun; Vol. 21 Suppl 1, pp. S22-6.
Publication Year :
2014

Abstract

Mucopolysaccharidoses (MPS) are inherited metabolic diseases caused by mutations in the genes coding for one of the eleven enzymes involved in lysosomal catabolism of different glycosaminoglycans (or mucopolysaccharides). The different enzyme deficiencies result in a total of seven distinct mucopolysaccharidoses (I to IV, VI, VII and IX). This review considers the genetic and molecular aspects of the seven types of MPS.<br /> (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Details

Language :
French
ISSN :
1769-664X
Volume :
21 Suppl 1
Database :
MEDLINE
Journal :
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Publication Type :
Academic Journal
Accession number :
25063380
Full Text :
https://doi.org/10.1016/S0929-693X(14)72255-9