-
2
-
-
0000216808
-
-
eds Scriver CR, Beaudet AL, Sly WS, Valle D McGraw-Hill, New York, pp
-
Beutler E, Grabowski GA (2001) in The Metabolic and Molecular Bases of Inherited Disease, eds Scriver CR, Beaudet AL, Sly WS, Valle D (McGraw-Hill, New York), pp 3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
3
-
-
0025236339
-
-
Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Proc Natl Acad Sci USA 87:1913-1916.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1913-1916
-
-
Barton, N.W.1
Furbish, F.S.2
Murray, G.J.3
Garfield, M.4
Brady, R.O.5
-
4
-
-
0025869216
-
-
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. (1991) N Engl J Med 324:1464-1470.
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argoff, C.E.10
-
5
-
-
0026474627
-
-
Figueroa ML, Rosenbloom BE, Kay AC, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E (1992) N Engl J Med 327:1632-1636.
-
(1992)
N Engl J Med
, vol.327
, pp. 1632-1636
-
-
Figueroa, M.L.1
Rosenbloom, B.E.2
Kay, A.C.3
Garver, P.4
Thurston, D.W.5
Koziol, J.A.6
Gelbart, T.7
Beutler, E.8
-
6
-
-
0028883136
-
-
Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO (1995) Ann Intern Med 122:33-39.
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
Dambrosia, J.M.4
Banerjee, T.K.5
McKee, M.A.6
Parker, C.7
Schiffmann, R.8
Hill, S.C.9
Brady, R.O.10
-
9
-
-
0031958536
-
-
Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E (1998) Pediatr Res 43:571-578.
-
(1998)
Pediatr Res
, vol.43
, pp. 571-578
-
-
Tayebi, N.1
Reissner, K.J.2
Lau, E.K.3
Stubblefield, B.K.4
Klineburgess, A.C.5
Martin, B.M.6
Sidransky, E.7
-
15
-
-
3242703423
-
-
Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, et al. (2004) Mol Genet Metab 82:192-207.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
Mixon, T.4
Sandberg, G.D.5
Wakefield, L.K.6
Morrison, A.7
Lwin, A.8
Colegial, C.9
Allman, J.M.10
-
16
-
-
36849000942
-
-
eds Futerman A, Zimran A Taylor & Francis, Boca Raton, FL, pp
-
Wong K (2007) in Gaucher Disease, eds Futerman A, Zimran A (Taylor & Francis, Boca Raton, FL), pp 225-248.
-
(2007)
Gaucher Disease
, pp. 225-248
-
-
Wong, K.1
-
17
-
-
0026778029
-
-
Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP (1992) Nature 357:407-410.
-
(1992)
Nature
, vol.357
, pp. 407-410
-
-
Tybulewicz, V.L.1
Tremblay, M.L.2
LaMarca, M.E.3
Willemsen, R.4
Stubblefield, B.K.5
Winfield, S.6
Zablocka, B.7
Sidransky, E.8
Martin, B.M.9
Huang, S.P.10
-
18
-
-
0028331151
-
-
Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E (1994) J Clin Invest 93:1756-1764.
-
(1994)
J Clin Invest
, vol.93
, pp. 1756-1764
-
-
Holleran, W.M.1
Ginns, E.I.2
Menon, G.K.3
Grundmann, J.U.4
Fartasch, M.5
McKinney, C.E.6
Elias, P.M.7
Sidransky, E.8
-
20
-
-
33748793666
-
-
Enquist IB, Nilsson E, Ooka A, Mansson JE, Olsson K, Ehinger M, Brady RO, Richter J, Karlsson S (2006) Proc Natl Acad Sci USA 103:13819-13824.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 13819-13824
-
-
Enquist, I.B.1
Nilsson, E.2
Ooka, A.3
Mansson, J.E.4
Olsson, K.5
Ehinger, M.6
Brady, R.O.7
Richter, J.8
Karlsson, S.9
-
21
-
-
0035734285
-
-
Jonkers J, Meuwissen R, van der Gulden H, Peterse H, van der Valk M, Berns A (2001) Nat Genet 29:418-425.
-
(2001)
Nat Genet
, vol.29
, pp. 418-425
-
-
Jonkers, J.1
Meuwissen, R.2
van der Gulden, H.3
Peterse, H.4
van der Valk, M.5
Berns, A.6
-
23
-
-
0032478309
-
-
Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Doring T, Sandhoff K, Proia RL (1998) Proc Natl Acad Sci USA 95:2503-2508.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2503-2508
-
-
Liu, Y.1
Suzuki, K.2
Reed, J.D.3
Grinberg, A.4
Westphal, H.5
Hoffmann, A.6
Doring, T.7
Sandhoff, K.8
Proia, R.L.9
-
24
-
-
1542722942
-
-
Hess DC, Abe T, Hill WD, Studdard AM, Carothers J, Masuya M, Fleming PA, Drake CJ, Ogawa M (2004) Exp Neurol 186:134-144.
-
(2004)
Exp Neurol
, vol.186
, pp. 134-144
-
-
Hess, D.C.1
Abe, T.2
Hill, W.D.3
Studdard, A.M.4
Carothers, J.5
Masuya, M.6
Fleming, P.A.7
Drake, C.J.8
Ogawa, M.9
-
26
-
-
0032842478
-
-
Tronche F, Kellendonk C, Kretz O, Gass P, Anlag K, Orban PC, Bock R, Klein R, Schutz G (1999) Nat Genet 23:99-103.
-
(1999)
Nat Genet
, vol.23
, pp. 99-103
-
-
Tronche, F.1
Kellendonk, C.2
Kretz, O.3
Gass, P.4
Anlag, K.5
Orban, P.C.6
Bock, R.7
Klein, R.8
Schutz, G.9
-
27
-
-
0033916912
-
-
Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI (2000) Pediatr Res 48:233-237.
-
(2000)
Pediatr Res
, vol.48
, pp. 233-237
-
-
Orvisky, E.1
Sidransky, E.2
McKinney, C.E.3
Lamarca, M.E.4
Samimi, R.5
Krasnewich, D.6
Martin, B.M.7
Ginns, E.I.8
-
28
-
-
0346218248
-
-
Schueler UH, Kolter T, Kaneski CR, Blusztajn JK, Herkenham M, Sandhoff K, Brady RO (2003) Neurobiol Dis 14:595-601.
-
(2003)
Neurobiol Dis
, vol.14
, pp. 595-601
-
-
Schueler, U.H.1
Kolter, T.2
Kaneski, C.R.3
Blusztajn, J.K.4
Herkenham, M.5
Sandhoff, K.6
Brady, R.O.7
-
29
-
-
10744229216
-
-
Mignot C, Gelot A, Bessieres B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, et al. (2003) Am J Med Genet A 120:338-344.
-
(2003)
Am J Med Genet A
, vol.120
, pp. 338-344
-
-
Mignot, C.1
Gelot, A.2
Bessieres, B.3
Daffos, F.4
Voyer, M.5
Menez, F.6
Fallet Bianco, C.7
Odent, S.8
Le Duff, D.9
Loget, P.10
-
32
-
-
33744798774
-
-
Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, Kollias G, Cleveland DW (2006) Science 312:1389-1392.
-
(2006)
Science
, vol.312
, pp. 1389-1392
-
-
Boillee, S.1
Yamanaka, K.2
Lobsiger, C.S.3
Copeland, N.G.4
Jenkins, N.A.5
Kassiotis, G.6
Kollias, G.7
Cleveland, D.W.8
-
34
-
-
1842584949
-
-
Gao Q, Wolfgang MJ, Neschen S, Morino K, Horvath TL, Shulman GI, Fu XY (2004) Proc Natl Acad Sci USA 101:4661-4666.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 4661-4666
-
-
Gao, Q.1
Wolfgang, M.J.2
Neschen, S.3
Morino, K.4
Horvath, T.L.5
Shulman, G.I.6
Fu, X.Y.7
-
35
-
-
23044503258
-
-
Jiang Y, de Bruin A, Caldas H, Fangusaro J, Hayes J, Conway EM, Robinson ML, Altura RA (2005) J Neurosci 25:6962-6970.
-
(2005)
J Neurosci
, vol.25
, pp. 6962-6970
-
-
Jiang, Y.1
de Bruin, A.2
Caldas, H.3
Fangusaro, J.4
Hayes, J.5
Conway, E.M.6
Robinson, M.L.7
Altura, R.A.8
-
36
-
-
17944373768
-
-
Graus-Porta D, Blaess S, Senften M, Littlewood-Evans A, Damsky C, Huang Z, Orban P, Klein R, Schittny JC, Muller U (2001) Neuron 31:367-379.
-
(2001)
Neuron
, vol.31
, pp. 367-379
-
-
Graus-Porta, D.1
Blaess, S.2
Senften, M.3
Littlewood-Evans, A.4
Damsky, C.5
Huang, Z.6
Orban, P.7
Klein, R.8
Schittny, J.C.9
Muller, U.10
-
37
-
-
0036679197
-
-
Lo Bianco C, Ridet JL, Schneider BL, Deglon N, Aebischer P (2002) Proc Natl Acad Sci USA 99:10813-10818.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10813-10818
-
-
Lo Bianco, C.1
Ridet, J.L.2
Schneider, B.L.3
Deglon, N.4
Aebischer, P.5
-
38
-
-
0025322367
-
-
Kyllerman M, Conradi N, Mansson JE, Percy AK, Svennerholm L (1990) Acta Paediatr Scand 79:448-453.
-
(1990)
Acta Paediatr Scand
, vol.79
, pp. 448-453
-
-
Kyllerman, M.1
Conradi, N.2
Mansson, J.E.3
Percy, A.K.4
Svennerholm, L.5
-
39
-
-
0022975258
-
-
Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legler G, Gatt S, Desnick RJ (1986) J Biol Chem 261:8263-8269.
-
(1986)
J Biol Chem
, vol.261
, pp. 8263-8269
-
-
Grabowski, G.A.1
Osiecki-Newman, K.2
Dinur, T.3
Fabbro, D.4
Legler, G.5
Gatt, S.6
Desnick, R.J.7
-
40
-
-
0025219491
-
-
Fink JK, Correll PH, Perry LK, Brady RO, Karlsson S (1990) Proc Natl Acad Sci USA 87:2334-2338.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2334-2338
-
-
Fink, J.K.1
Correll, P.H.2
Perry, L.K.3
Brady, R.O.4
Karlsson, S.5
|