-
6
-
-
0007104365
-
-
P.G. Pentchev, M.T. Vanier, K. Suzuki, M.C. Patterson, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, New York, 1995, pp. 2625-2639.
-
-
-
-
10
-
-
0030814587
-
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 139-142
-
-
Greer, W.L.1
Riddell, D.C.2
Byers, D.M.3
Welch, J.P.4
Girouard, G.S.5
Sparrow, S.M.6
Gillan, T.L.7
Neumann, P.E.8
-
11
-
-
0033361755
-
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1321-1329
-
-
Millat, G.1
Marcais, C.2
Rafi, M.A.3
Yamamoto, T.4
Morris, J.A.5
Pentchev, P.G.6
Ohno, K.7
Wenger, D.A.8
Vanier, M.T.9
-
14
-
-
0027512555
-
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 2002-2004
-
-
Carstea, E.D.1
Polymeropoulos, M.H.2
Parker, C.C.3
Detera-Wadleigh, S.D.4
O'Neill, R.O.5
Patterson, M.C.6
Goldin, E.7
Xiao, H.8
Straub, R.E.9
Vanier, M.T.10
Brady, R.O.11
Pentchev, P.G.12
-
16
-
-
0034639928
-
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1087-1092
-
-
Liu, Y.1
Wu, Y.P.2
Wada, R.3
Neufeld, E.B.4
Mullin, K.A.5
Howard, A.C.6
Pentchev, P.G.7
Vanier, M.T.8
Suzuki, K.9
Proia, R.L.10
-
31
-
-
0033515560
-
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 9627-9635
-
-
Neufeld, E.B.1
Wastney, M.2
Patel, S.3
Suresh, S.4
Cooney, A.M.5
Dwyer, N.K.6
Roff, C.F.7
Ohno, K.8
Morris, J.A.9
Carstea, E.D.10
Incardona, J.P.11
Strauss J.F. III12
Vanier, M.T.13
Patterson, M.C.14
Brady, R.O.15
Pentchev, P.G.16
Blanchette-Mackie, E.J.17
-
39
-
-
0033514298
-
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 805-810
-
-
Watari, H.1
Blanchette-Mackie, E.J.2
Dwyer, N.K.3
Glick, J.M.4
Patel, S.5
Neufeld, E.B.6
Brady, R.O.7
Pentchev, P.G.8
Strauss J.F. III9
-
43
-
-
1642454485
-
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1657-1662
-
-
Patel, S.C.1
Suresh, S.2
Kumar, U.3
Hu, C.Y.4
Cooney, A.5
Blanchette-Mackie, E.J.6
Neufeld, E.B.7
Patel, R.C.8
Brady, R.O.9
Patel, Y.C.10
Pentchev, P.G.11
Ong, W.I.12
-
45
-
-
0033145510
-
-
(1999)
Nat. Cell Biol.
, vol.1
, pp. 113-118
-
-
Kobayashi, T.1
Beuchat, M.H.2
Lindsay, M.3
Frias, S.4
Palmiter, R.D.5
Sakuraba, H.6
Parton, R.G.7
Gruenberg, J.8
-
46
-
-
0007054281
-
-
E.J. Blanchette-Mackie, P.G. Pentchev, in: D.A. Freeman, T.Y. Chang (Eds.), Intracellular Cholesterol Trafficking, Kluwer Academic Publishers, Boston, MA, 1998, pp. 53-73.
-
-
-
-
47
-
-
0007009605
-
-
A. Frolov, K. Srivastava, D. Daphna-Iken, L.M. Traub, J.E. Schaffer, D.S. Ory, (2000) in preparation.
-
-
-
-
51
-
-
1842314819
-
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 8022-8026
-
-
Blanchette-Mackie, E.J.1
Dwyer, N.K.2
Amende, L.M.3
Kruth, H.S.4
Butler, J.D.5
Sokol, J.6
Comly, M.E.7
Vanier, M.T.8
August, J.T.9
Brady, R.O.10
Pentchev, P.G.11
-
57
-
-
0022645214
-
-
(1986)
Pediatrics
, vol.77
, pp. 104-106
-
-
Gartner, J.C.1
Bergman, I.2
Malatack, J.J.3
Zitelli, B.J.4
Jaffe, R.5
Watkins, J.B.6
Shaw, B.W.7
Iwatsuki, S.8
Starzl, T.E.9
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