-
1
-
-
6844237821
-
-
Japanese source
-
-
-
-
2
-
-
0022463717
-
Ultrastructual and biochemical aspects of the Sanfilippo syndrome-type genetic mucopolysaccharidosis
-
Haust MD, Gordon BA : Ultrastructual and biochemical aspects of the Sanfilippo syndrome-type genetic mucopolysaccharidosis. Connect Tissue Res 15: 57-64, 1986
-
(1986)
Connect Tissue Res
, vol.15
, pp. 57-64
-
-
Haust, M.D.1
Gordon, B.A.2
-
3
-
-
0027496536
-
The mucopolysaccharidoses : Characterization by cranial MR imaging
-
Lee C, Dineen TE, Brack M. Kirsh JE, Runge Val M : The mucopolysaccharidoses : Characterization by cranial MR imaging. AJNR 14: 1285-1292, 1993
-
(1993)
AJNR
, vol.14
, pp. 1285-1292
-
-
Lee, C.1
Dineen, T.E.2
Brack, M.3
Kirsh, J.E.4
Runge Val, M.5
-
4
-
-
0028033885
-
Sanfilippo syndrome type A in two adult sibs
-
Lindor NM, Hoffmann A. O'Brien JF, Hanson NP, Thompson JN : Sanfilippo syndrome type A in two adult sibs. Am J Med Genet 53: 241-244, 1994
-
(1994)
Am J Med Genet
, vol.53
, pp. 241-244
-
-
Lindor, N.M.1
Hoffmann, A.2
O'Brien, J.F.3
Hanson, N.P.4
Thompson, J.N.5
-
5
-
-
0027422756
-
Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A : Implications for evaluation of new therapies
-
McDowell GA, Cowan TM, Blitzer MG, Greene CL : Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A : Implications for evaluation of new therapies. Am J Med Genet 47: 1092 -1095, 1993
-
(1993)
Am J Med Genet
, vol.47
, pp. 1092-1095
-
-
McDowell, G.A.1
Cowan, T.M.2
Blitzer, M.G.3
Greene, C.L.4
-
6
-
-
0000820862
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, McGraw-Hill, New York
-
Neufeld EF, Muenzer J : The mucopolysaccharidoses. Scriver CR, Beaudet AL, Sly WS, Valle D : The Metabolic Basis of Inherited Disease II, 6 th Ed, McGraw-Hill, New York. pp1565-1587, 1989
-
(1989)
The Metabolic Basis of Inherited Disease II, 6 Th Ed
, pp. 1565-1587
-
-
Neufeld, E.F.1
Muenzer, J.2
-
7
-
-
6844246039
-
-
Japanese source
-
-
-
-
8
-
-
6844231931
-
-
Japanese source
-
-
-
-
9
-
-
0000646543
-
Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)
-
Sanfilippo SJ, Podosin R, Langer L, Good RA : Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J Pediat 63: 837-838, 1963
-
(1963)
J Pediat
, vol.63
, pp. 837-838
-
-
Sanfilippo, S.J.1
Podosin, R.2
Langer, L.3
Good, R.A.4
-
10
-
-
0028876076
-
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
-
Scott HS, Blanch L, Guo XH. Freeman C, Osborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ : Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet 11: 465-467, 1995
-
(1995)
Nat Genet
, vol.11
, pp. 465-467
-
-
Scott, H.S.1
Blanch, L.2
Guo, X.H.3
Freeman, C.4
Osborn, A.5
Baker, E.6
Sutherland, G.R.7
Morris, C.P.8
Hopwood, J.J.9
-
11
-
-
0019406297
-
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (type A, B, and C)
-
van de Kamp JJP, Niermeijer MF, von Figura K, Giesberts MA : Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (type A, B, and C). Clin Genet 20. 152-160, 1981
-
(1981)
Clin Genet
, vol.20
, pp. 152-160
-
-
Van De Kamp, J.J.P.1
Niermeijer, M.F.2
Von Figura, K.3
Giesberts, M.A.4
-
12
-
-
0016750630
-
Morphological and biochemical findings in a case of mucopolysaccharidosis Type III a (Sanfilippo's disease Type A)
-
Witting Chr, Muller KM, Kresse II, Figura A, Mar H : Morphological and biochemical findings in a case of mucopolysaccharidosis Type III A (Sanfilippo's disease Type A). Beitr Path Bd 154 : 324-338, 1975
-
(1975)
Beitr Path Bd
, vol.154
, pp. 324-338
-
-
Witting, Chr.1
Muller, K.M.2
Kresse, I.I.3
Figura, A.4
Mar, H.5
|