-
1
-
-
0000815355
-
-
eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D.. 7th ed., McGraw-Hill, New York
-
Pentchev, P. G., Vanier, M. T., Suzuki, K., and Patterson, M. C. (1995) In The Metabolic and Molecular Bases of Inherited Disease (eds. Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D.). 7th ed., McGraw-Hill, New York, pp. 2625-2639.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2625-2639
-
-
Pentchev, P.G.1
Vanier, M.T.2
Suzuki, K.3
Patterson, M.C.4
-
2
-
-
0002588480
-
-
eds. Scriver, C. R., Beaudet, A. L., Sly, W.S., and Valle, D.. 6th ed., McGraw-Hill, New York
-
Spence, M. W., and Callahan, J. W. (1989) In The Metabolic Basis of Inherited Disease (eds. Scriver, C. R., Beaudet, A. L., Sly, W.S., and Valle, D.). 6th ed., McGraw-Hill, New York, pp. 1655-1676.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 1655-1676
-
-
Spence, M.W.1
Callahan, J.W.2
-
3
-
-
0009294796
-
-
eds. Salvayre, R., Douste-Blazy, L., and Gatt, S.. Plenum, New York
-
Vanier, M. T., Pentchev, P. G., and Rousson R. (1988) In Lipid Storage Disorders, Biological and Medical Aspects (eds. Salvayre, R., Douste-Blazy, L., and Gatt, S.). Plenum, New York, pp. 175-185.
-
(1988)
Lipid Storage Disorders, Biological and Medical Aspects
, pp. 175-185
-
-
Vanier, M.T.1
Pentchev, P.G.2
Rousson, R.3
-
4
-
-
0019124675
-
-
Pentchev, P. G., Gal, A. E., Booth, A. D., Omodeo-Sale, F., Fouks, J., Neumeyer, B. A., Quirk J, M., Dawson, G., and Brady R. O. (1980) Biochim. Biophys. Acta 619, 669-679.
-
(1980)
Biochim. Biophys. Acta
, vol.619
, pp. 669-679
-
-
Pentchev, P.G.1
Gal, A.E.2
Booth, A.D.3
Omodeo-Sale, F.4
Fouks, J.5
Neumeyer, B.A.6
Quirk, J.M.7
Dawson, G.8
Brady, R.O.9
-
5
-
-
0022385951
-
-
Weintraub, H., Abramovici, A., Sandbank, U., Pentchev, P. G., Brady, R. O., Sekine, A., Suzuki, A., and Sela, B. (1985) J. Neurochem. 45, 665-672.
-
(1985)
J. Neurochem.
, vol.45
, pp. 665-672
-
-
Weintraub, H.1
Abramovici, A.2
Sandbank, U.3
Pentchev, P.G.4
Brady, R.O.5
Sekine, A.6
Suzuki, A.7
Sela, B.8
-
6
-
-
0025777970
-
-
Vanier, M. T., Rodriguez-Lafrasse, C., Rousson, R., Gazzah, N., Juge, M-C., Pentchev, P. G., Revol, A., and Louisot, P. (1991) Biochem. Biophys. Acta 1096, 328-337.
-
(1991)
Biochem. Biophys. Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Gazzah, N.4
Juge, M.-C.5
Pentchev, P.G.6
Revol, A.7
Louisot, P.8
-
7
-
-
0023588096
-
-
Penchev, 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., and Brady, R. O. (1987) FASEB J. 1, 40-47.
-
(1987)
FASEB J.
, vol.1
, pp. 40-47
-
-
Penchev, 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
-
10
-
-
0027377426
-
-
Ohno, K., Nanba, E., Nakano, T., Inui. K., Okada, S., and Takeshita, K. (1993) Cell Struct. Funct. 18, 231-240.
-
(1993)
Cell Struct. Funct.
, vol.18
, pp. 231-240
-
-
Ohno, K.1
Nanba, E.2
Nakano, T.3
Inui, K.4
Okada, S.5
Takeshita, K.6
-
11
-
-
0029655528
-
-
Vanier, M. T., Duthel, S., Rodriguez-Lafrasse, C., Pentchev., P. G., and Carstea, E. D. (1996) Am. J. Hum. Genet. 58, 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.G.4
Carstea, E.D.5
-
12
-
-
0021346802
-
-
Pentchev, P. G., Boothe, A. D., Kruth, H. S., Weintraub, H., Stivers, J., and Brady, R. O. (1984) J. Biol. Chem. 259, 5784-5791.
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 5784-5791
-
-
Pentchev, P.G.1
Boothe, A.D.2
Kruth, H.S.3
Weintraub, H.4
Stivers, J.5
Brady, R.O.6
-
14
-
-
0028330236
-
-
Steinberg, S. J., Ward, C. P., and Fensom, A. H. (1994) J. Med. Genet. 31, 317-320.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
15
-
-
0026623201
-
-
Kotani, M., Ozawa, H., Kawashima, I., Ando, S., and Tai., T. (1992) Biochim. Biophys. Acta 1117, 97-103.
-
(1992)
Biochim. Biophys. Acta
, vol.1117
, pp. 97-103
-
-
Kotani, M.1
Ozawa, H.2
Kawashima, I.3
Ando, S.4
Tai, T.5
-
16
-
-
0242429167
-
-
Oxford University Press, New York
-
Emmanuel, S., Miriam, G.B., James, B. M., and Diane, K. A. (1989) Biochemical Genetics : A Laboratory Manual. Oxford University Press, New York, pp. 25-55.
-
(1989)
Biochemical Genetics : a Laboratory Manual
, pp. 25-55
-
-
Emmanuel, S.1
Miriam, G.B.2
James, B.M.3
Diane, K.A.4
-
17
-
-
0017576431
-
-
Fishman, P. H., Moss, J., and Manganiello, V. C. (1977) Biochemistry 16, 1871-1875.
-
(1977)
Biochemistry
, vol.16
, pp. 1871-1875
-
-
Fishman, P.H.1
Moss, J.2
Manganiello, V.C.3
-
18
-
-
0027337312
-
-
Sakuraba, H., Itoh, K., Kotani, M., Tai, T., Yamada, H., Kurosawa, K., Kuroki, Y., Suzuki, H., Utsunomiya, T., Inoue, H., and Suzuki, Y. (1993) Brain & Dev. 15, 278-282.
-
(1993)
Brain & Dev.
, vol.15
, pp. 278-282
-
-
Sakuraba, H.1
Itoh, K.2
Kotani, M.3
Tai, T.4
Yamada, H.5
Kurosawa, K.6
Kuroki, Y.7
Suzuki, H.8
Utsunomiya, T.9
Inoue, H.10
Suzuki, Y.11
-
19
-
-
1842314819
-
-
Blanchette-Mackie, E. J., Dwyer, N. K., Amende, L. M., Kruth, H. S., Butler, J. D., Sokol, J., Comly, M. E., Vanier, M. T., August, J. T., Brady, R. O., and Pentchev, P. G. (1988) Proc. Natl. Acad. Sci. U.S.A. 85, 8022-8026.
-
(1988)
Proc. Natl. Acad. Sci. U.S.A.
, 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
-
20
-
-
0027223865
-
-
Kurimasa, A., Ohno, K., and Oshimura, M. (1993) Hum. Genet. 92, 157-162.
-
(1993)
Hum. Genet.
, vol.92
, pp. 157-162
-
-
Kurimasa, A.1
Ohno, K.2
Oshimura, M.3
-
21
-
-
0027512555
-
-
Carstea, E. D., Polymeropoulos, M. H. Parker, C. C., Detera-Wadleigh, S. D., O'Neill, R. R., Patterson, M. C., Goldin, E., Xiao, H., Straub, R. E., Vanier, M. T., Brady, R. O., and Pentchev, P. G. (1993) Proc. Natl. Acad. Sci. U.S.A. 90, 2002-2004.
-
(1993)
Proc. Natl. Acad. Sci. U.S.A.
, 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.R.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
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