Citations for
1GNS, MPS3D
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E.
Arch Neurol 64(11):1629-34. 2007
2GNS, MPS3D
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.
Mok A, Cao H, Hegele RA.
Genomics 81(1):1-5. 2003
3MPS3D
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP.
J Med Genet 40(3):192-4. 2003
4GNS, MPS3D
Sanfilippo type D disease : Clinical findings in two patients with a new variant of mucopolysaccharidosis III.
Gatti R, et al.
Eur J Pediatr 138 : 168-171. 1982
5GNS, MPS3D
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
Kresse H, et al.
Proc Natl Acad Sci U S A 77 : 6822-6826. 1980