1 | GNS, 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 | |
2 | ARSA, ARSB, ARSC2, ARSD, ARSE, ARSF, ARSG, ARSH, ARSJ, ARSK, ARSI, SUMF1, GALNS, SULF1, SULF2, SGSH, GNS, IDS |
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. | |
Sardiello M, Annunziata I, Roma G, Ballabio A. | |
Hum Mol Genet 14(21):3203-17. Epub 2005 Sep 20. 2005 | |
3 | GNS, 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 | |
4 | GNS |
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. | |
Robertson DA, et al. | |
Hum Genet 79 : 175-178. 1988 | |
5 | GNS, 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 | |
6 | GNS, 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 | |