-
1
-
-
0017411710
-
The Protein Data Bank: A computer-based archival file for macromolecular structures
-
(1977)
J. Mol. Biol.
, vol.112
, pp. 535-542
-
-
Bernstein, F.C.1
Koetzle, T.F.2
Williams, G.J.3
Meyer E.E., Jr.4
Brice, M.D.5
Rodgers, J.R.6
Kennard, O.7
Shimanouchi, T.8
Tasumi, M.9
-
6
-
-
16944363330
-
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
-
(1997)
Hum. Mutat.
, vol.10
, pp. 479-485
-
-
Bunge, S.1
Ince, H.2
Steglich, C.3
Kleijer, W.J.4
Beck, M.5
Zaremba, J.6
Van Diggelen, O.P.7
Weber, B.8
Hopwood, J.J.9
Gal, A.10
-
9
-
-
0031866434
-
Sulfamidase deficiency in a family of Dachshunds: A canine model of mucopolysaccharidosis IIIA (Sanfilippo A)
-
(1998)
Pediatr. Res.
, vol.44
, pp. 74-82
-
-
Fischer, A.1
Carmichael, K.P.2
Munnell, J.F.3
Jhabvala, P.4
Thompson, J.N.5
Matalon, R.6
Jezyk, P.F.7
Wang, P.8
Giger, U.9
-
10
-
-
0028924667
-
A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
-
(1995)
Cell
, vol.81
, pp. 15-25
-
-
Franco, B.1
Meroni, G.2
Parenti, G.3
Levilliers, J.4
Bernard, L.5
Gebbia, M.6
Cox, L.7
Maroteaux, P.8
Sheffield, L.9
Rappold, G.A.10
-
11
-
-
0033153522
-
Molecular basis of feline β-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII
-
(1999)
Genomics
, vol.58
, pp. 121-128
-
-
Fyfe, J.C.1
Kurzhals, R.L.2
Lassaline, M.E.3
Henthorn, P.S.4
Alur, P.R.5
Wang, P.6
Wolfe, J.H.7
Giger, U.8
Haskins, M.E.9
Patterson, D.F.10
Sun, H.11
Jain, S.12
Yuhki, N.13
-
12
-
-
0025367812
-
Sequence differences between glycosylated and non-glycosylated Asn-X-Thr/Ser accep-tor sites: Implications for protein engineering
-
(1990)
Protein Eng.
, vol.3
, pp. 433-442
-
-
Gavel, Y.1
Von Heijne, G.2
-
16
-
-
0015698174
-
Mucopolysaccharidosis 3 A (Sanfilippo A disease): Deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes
-
(1973)
Biochem. Biophys. Res. Commun.
, vol.54
, pp. 1111-1118
-
-
Kresse, H.1
-
22
-
-
0000820862
-
The mucopolysaccharidoses
-
'The Metabolic and Molecular Basis of Inherited Disease' (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.) , McGraw-Hill, New York
-
(1995)
, pp. 2465-2494
-
-
Neufeld, E.F.1
Muenzer, J.2
-
25
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
(1999)
Hum. Genet.
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
DeJong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
26
-
-
0032033199
-
Cloning of the canine β-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells
-
(1998)
Genomics
, vol.48
, pp. 248-253
-
-
Ray, J.1
Bouvet, A.2
DeSanto, C.3
Fyfe, J.C.4
Xu, D.5
Wolfe, J.H.6
Aguirre, G.D.7
Patterson, D.F.8
Haskins, M.E.9
Henthorn, P.S.10
-
27
-
-
0029889988
-
PHD: Predicting one-dimensional protein structure by profile-based neural networks
-
(1996)
Methods Enzymol.
, vol.266
, pp. 525-539
-
-
Rost, B.1
-
29
-
-
0028876076
-
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
-
(1995)
Nat. Genet.
, vol.11
, pp. 465-457
-
-
Scott, H.S.1
Blanch, L.2
Guo, X.H.3
Freeman, C.4
Orsborn, A.5
Baker, E.6
Sutherland, G.R.7
Morris, C.P.8
Hopwood, J.J.9
-
30
-
-
0026327213
-
Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.181
, pp. 677-683
-
-
Tomatsu, S.1
Fukuda, S.2
Masue, M.3
Sukegawa, K.4
Fukao, T.5
Yamagishi, A.6
Hori, T.7
Iwata, H.8
Ogawa, T.9
Nakashima, Y.10
Hanyu, Y.11
Hashimoto, T.12
Titani, K.13
Oyama, R.14
Suzuki, M.15
Yagi, K.16
Hayashi, Y.17
Orii, T.18
-
32
-
-
0001040782
-
The mucopolysaccharidoses
-
'McKusick's Heritable Diseases of Connective Tissue' (P. Beighton, Ed.), Mosby, St. Louis
-
(1993)
, pp. 367-499
-
-
Whitley, C.B.1
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