| Literature DB >> 25063380 |
D Lacombe1, D P Germain2.
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.Entities:
Mesh:
Year: 2014 PMID: 25063380 DOI: 10.1016/S0929-693X(14)72255-9
Source DB: PubMed Journal: Arch Pediatr ISSN: 0929-693X Impact factor: 1.180