Article
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation - 1 May 2010
Valstar Marlies J, Bertoli-Avella Aida M, Wessels Marja W, Ruijter George J G, de Graaf Bianca, Olmer Renske, Elfferich Peter, Neijs Sanne, Kariminejad Roxana, Suheyl Ezgü Fatih, Tokatli Aysegul, Czartoryska Barbara, Bosschaart Ad N, van den Bos-Terpstra Feikje, Puissant Hugues, Bürger Friederike, Omran Heymut, Eckert D, Filocamo Mirella, Simeonov Emil, Willems Patrick J, Wevers Ron A, Niermeijer Martinus F, Halley Dicky J J, Poorthuis Ben J H M, van Diggelen Otto P
Abstract excerpt
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. So far only seven mutations in the GNS gene have been reported. The clinical phenotype of 12...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.