-
1
-
-
0003720078
-
-
C. R. Scriver, W. S. Sly, A. L. Beaudet, & D. Valle. New York: McGraw Hill
-
Patterson M. C., Vanier M. T., Suzuki K., Morris J. A., Carstea E. D., Neufeld E., Blanchett-Mackie E. J., Pentchev P. G. Scriver C. R., Sly W. S., Beaudet A. L., Valle D. The Metabolic and Molecular Bases of Inherited Disease. 1997;McGraw Hill, New York.
-
(1997)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
Morris, J.A.4
Carstea, E.D.5
Neufeld, E.6
Blanchett-Mackie, E.J.7
Pentchev, P.G.8
-
2
-
-
0027976761
-
-
Pentchev P. G., Brady R. O., Blanchette-Mackie E. J., Vanier M. T., Carstea E. D., Parker C. C., Goldin E., Roff C. F. Biochim. Biophys. Acta. 1225:1994;235-243.
-
(1994)
Biochim. Biophys. Acta
, vol.1225
, pp. 235-243
-
-
Pentchev, P.G.1
Brady, R.O.2
Blanchette-Mackie, E.J.3
Vanier, M.T.4
Carstea, E.D.5
Parker, C.C.6
Goldin, E.7
Roff, C.F.8
-
4
-
-
0022980841
-
-
Pentchev P. G., Comly M. E., Kruth H. S., Patel S., Proestel M., Weintroub H. J. Biol. Chem. 261:1986;2772-2777.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 2772-2777
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
Patel, S.4
Proestel, M.5
Weintroub, H.6
-
5
-
-
0023588096
-
-
Pentchev P. G., Comly M. E., Kruth H. S., Tokoro T., Butler J., Sokol J., Filling-Katz M., Quirk J. M., Marshall D. C., Patel S., Vanier M. T., Brady R. O. FASEB J. 1:1987;40-45.
-
(1987)
FASEB J.
, vol.1
, pp. 40-45
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
Tokoro, T.4
Butler, J.5
Sokol, J.6
Filling-Katz, M.7
Quirk, J.M.8
Marshall, D.C.9
Patel, S.10
Vanier, M.T.11
Brady, R.O.12
-
6
-
-
0023850575
-
-
Sokol J., Blanchette-Mackie E. J., Kruth H. S., Dwyer N. K., Amende L. M., Butler J. D., Robinson E., Patel S., Brady R. O., Comly M. E., Vanier M. T., Pentchev P. G. J. Biol. Chem. 263:1988;3411-3417.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 3411-3417
-
-
Sokol, J.1
Blanchette-Mackie, E.J.2
Kruth, H.S.3
Dwyer, N.K.4
Amende, L.M.5
Butler, J.D.6
Robinson, E.7
Patel, S.8
Brady, R.O.9
Comly, M.E.10
Vanier, M.T.11
Pentchev, P.G.12
-
7
-
-
0033515560
-
-
Neufeld E. B., Wastney M., Patel S., Suresh S., Cooney A. M., Dwyer N. K., Roff C. F., Ohno K., Morris J. A., Carstea E. D., Incardona J. P., Strauss J. F. III, Vanier M. T., Patterson M. C., Brady R. O., Pentchev P. G., Blanchette-Mackie E. J. J. Biol. Chem. 274:1999;9627-9635.
-
(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
-
8
-
-
0026736134
-
-
Vanier T. M., Rodriguez-Lafrasse C., Rousson R., Mandon G., Boue J., Choiset A., Peyrat M., Dumontel C., Juge M., Pentchev P. G., Revol A., Louisot P. Am. J. Hum. Genet. 51:1992;111-122.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 111-122
-
-
Vanier, T.M.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Mandon, G.4
Boue, J.5
Choiset, A.6
Peyrat, M.7
Dumontel, C.8
Juge, M.9
Pentchev, P.G.10
Revol, A.11
Louisot, P.12
-
9
-
-
0030863352
-
-
Carstea E. D., Morris J. A., Coleman K. G., Loftus S. K., Zhang D., Cummings C., Gu J., Rosenfeld M. A., Pavan W. J., Krizman D. B., Nagle J., Polymeropoulos M. H., Sturley S. L., Ioannou Y. A., Higgins M. E., Comly M., Cooney A., Brown A., Kaneski C. R., Blanchette-Mackie E. J., Dwyer N. K., Neufeld E. B., Chang T., Liscum L., Strauss J. F., Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R. R., Van Diggelen O. P., Elleder M., Patterson M. C., Brady R. O., Vanier M. T., Pentchev P. G., Tagle D. A. Science. 277:1997;228-231.
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
Gu, J.7
Rosenfeld, M.A.8
Pavan, W.J.9
Krizman, D.B.10
Nagle, J.11
Polymeropoulos, M.H.12
Sturley, S.L.13
Ioannou, Y.A.14
Higgins, M.E.15
Comly, M.16
Cooney, A.17
Brown, A.18
Kaneski, C.R.19
Blanchette-Mackie, E.J.20
Dwyer, N.K.21
Neufeld, E.B.22
Chang, T.23
Liscum, L.24
Strauss, J.F.25
Ohno, K.26
Zeigler, M.27
Carmi, R.28
Sokol, J.29
Markie, D.30
O'Neill, R.R.31
Van Diggelen, O.P.32
Elleder, M.33
Patterson, M.C.34
Brady, R.O.35
Vanier, M.T.36
Pentchev, P.G.37
Tagle, D.A.38
more..
-
10
-
-
0030768084
-
-
Loftus S. K., Morris J. A., Carstea E. D., Gu J. Z., Cummings C., Brown A., Ellison J., Ohno K., Rosenfeld M. A., Tagle D. A., Pentchev P. G., Pavan W. J. Science. 277:1997;232-235.
-
(1997)
Science
, vol.277
, pp. 232-235
-
-
Loftus, S.K.1
Morris, J.A.2
Carstea, E.D.3
Gu, J.Z.4
Cummings, C.5
Brown, A.6
Ellison, J.7
Ohno, K.8
Rosenfeld, M.A.9
Tagle, D.A.10
Pentchev, P.G.11
Pavan, W.J.12
-
11
-
-
0029655528
-
-
Vanier M. T., Duthel S., Rodriguez-Lafrasse C., Pentchev P., Carstea E. D. Am. J. Hum. Genet. 58:1996;118-125.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
Pentchev, P.4
Carstea, E.D.5
-
12
-
-
15844381336
-
-
Johnson R. L., Rothman A. L., Xie J., Goodrich L. V., Bare J. W., Bonifas J. M., Quinn A. G., Myers R. M., Cox D. R., Epstein E. H. Jr., Scott M. P. Science. 272:1996;1668-1671.
-
(1996)
Science
, vol.272
, pp. 1668-1671
-
-
Johnson, R.L.1
Rothman, A.L.2
Xie, J.3
Goodrich, L.V.4
Bare, J.W.5
Bonifas, J.M.6
Quinn, A.G.7
Myers, R.M.8
Cox, D.R.9
Epstein E.H., Jr.10
Scott, M.P.11
-
13
-
-
0021141736
-
-
Chin D. J., Gil G., Russell D. W., Liscum L., Luskey K. L., Basu S. K., Okayama H., Berg P., Goldstein J. L., Brown M. S. Nature. 308:1984;613-617.
-
(1984)
Nature
, vol.308
, pp. 613-617
-
-
Chin, D.J.1
Gil, G.2
Russell, D.W.3
Liscum, L.4
Luskey, K.L.5
Basu, S.K.6
Okayama, H.7
Berg, P.8
Goldstein, J.L.9
Brown, M.S.10
-
15
-
-
0032231442
-
-
Greer W. L., Riddell D. C., Gillan T. L., Girouard G. S., Sparrow S. M., Byers D. M., Dobson M. J., Neumann P. E. Am. J. Hum. Genet. 63:1998;52-54.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 52-54
-
-
Greer, W.L.1
Riddell, D.C.2
Gillan, T.L.3
Girouard, G.S.4
Sparrow, S.M.5
Byers, D.M.6
Dobson, M.J.7
Neumann, P.E.8
-
18
-
-
0028971143
-
-
Quandt K., Frech K., Karas H., Wingender E., Werner T. Nucleic Acids Res. 23:1995;4878-4884.
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4878-4884
-
-
Quandt, K.1
Frech, K.2
Karas, H.3
Wingender, E.4
Werner, T.5
-
20
-
-
0019363396
-
-
E. E. Snell, P. D. Boyer, A. Meister, & C. C. Richardson. Annual Reviews
-
Breathnach R., Chambon P. Snell E. E., Boyer P. D., Meister A., Richardson C. C. Annual Review of Biochemistry. 1981;349-383 Annual Reviews.
-
(1981)
Annual Review of Biochemistry
, pp. 349-383
-
-
Breathnach, R.1
Chambon, P.2
|