title: [Genetic aspects of mucopolysaccharidoses].
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.
authors: Service de génétique médicale, CHU de Bordeaux, Laboratoire Maladies rares : Génétique et métabolisme, EA4576, Université de Bordeaux, 146 rue Léo-Saignât, 33076 Bordeaux, France. Electronic address: didier.lacombe@chu-bordeaux.fr.
authors: D
authors: D
authors: Lacombe
authors: Service de génétique médicale, CHU Raymond-Poincaré, 104 boulevard Raymond-Poincaré, 92380 Garches, France; UFR des sciences de la santé, université de Versailles St Quentin en Yvelines, 2, avenue de la Source de la Bièvre, 78180 Montigny-le-Bretonneux, France.
authors: D P
authors: DP
authors: Germain
mesh_terms: D002648:Child; D006801:Humans; D009083:Mucopolysaccharidoses / Q000235:genetics*