Article
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
Archives of neurology - 1 Nov 2007
Jansen An C M, Cao Henian, Kaplan Paige, Silver Kenneth, Leonard Gabriel, De Meirleir Linda, Lissens Willy, Liebaers Inge, Veilleux Martin, Andermann Frederick, Hegele Robert A, Andermann Eva
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate. OBJECTIVES: To report the natural history of MPS-IIID in 2 siblings described by Kaplan and Wolfe in 1987 and to study the phenotype in 2 other...
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