-
1
-
-
0031058644
-
Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy
-
Bambach, B. J., Moser, H. W., Blakemore, K. J., Corson, V. L., Griffin, C. A., Noga, S. J., Perlman, E. J., Zuckerman, R., Wenger, D. A., and Jones, R. J. (1997). Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy. Bone Marrow Transplant. 19: 399-402.
-
(1997)
Bone Marrow Transplant.
, vol.19
, pp. 399-402
-
-
Bambach, B.J.1
Moser, H.W.2
Blakemore, K.J.3
Corson, V.L.4
Griffin, C.A.5
Noga, S.J.6
Perlman, E.J.7
Zuckerman, R.8
Wenger, D.A.9
Jones, R.J.10
-
2
-
-
0011176567
-
Galactosylceramide-lipidosis in Rhesus monkeys
-
Baskin, G., Alroy, J., Li, Y-T., Dayal, Y., Raghavan, S. S., and Sharer, L. (1989). Galactosylceramide-lipidosis in Rhesus monkeys. Lab. Invest. 60: 7A.
-
(1989)
Lab. Invest.
, vol.60
-
-
Baskin, G.1
Alroy, J.2
Li, Y.-T.3
Dayal, Y.4
Raghavan, S.S.5
Sharer, L.6
-
3
-
-
0027925873
-
Galactocerebrosidase from human urine: Purification and partial characterization
-
Chen, Y. Q., and Wenger, D. A. (1993). Galactocerebrosidase from human urine: Purification and partial characterization. Biochim. Biophys. Acta 1170: 53-61.
-
(1993)
Biochim. Biophys. Acta
, vol.1170
, pp. 53-61
-
-
Chen, Y.Q.1
Wenger, D.A.2
-
4
-
-
0027482779
-
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
-
Chen, Y. Q., Rafi, M. A., deGala, G., and Wenger, D. A. (1993). Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum. Mol. Genet. 2: 1841-1845.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1841-1845
-
-
Chen, Y.Q.1
Rafi, M.A.2
DeGala, G.3
Wenger, D.A.4
-
5
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski, P., and Sacchi, N. (1987). Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162: 156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
6
-
-
0000265106
-
Leukodystrophie vom typus Krabbe beim hund
-
Fankhauser, R., Luginbuhl, H., and Hartley, W. J. (1963). Leukodystrophie vom typus Krabbe beim hund. Schweiz Arch Tierheilkd. 105: 198-207.
-
(1963)
Schweiz Arch Tierheilkd.
, vol.105
, pp. 198-207
-
-
Fankhauser, R.1
Luginbuhl, H.2
Hartley, W.J.3
-
7
-
-
0014017320
-
Globoid cell leukodystrophy (Krabbe type) in the dog
-
Fletcher, T. F., Kurtz, H. J., and Low, D. G. (1966). Globoid cell leukodystrophy (Krabbe type) in the dog. J. Am. Vet. Med. Assoc. 149: 165-172.
-
(1966)
J. Am. Vet. Med. Assoc.
, vol.149
, pp. 165-172
-
-
Fletcher, T.F.1
Kurtz, H.J.2
Low, D.G.3
-
8
-
-
0023928896
-
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse
-
Hoogerbrugge, P. M., Poorthuis, B. J., Romme, A. E., van de Kamp, J. J., Wagemaker, G., and van Bekkum, D. W. (1988a). Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J. Clin. Invest. 81: 1790-1794.
-
(1988)
J. Clin. Invest.
, vol.81
, pp. 1790-1794
-
-
Hoogerbrugge, P.M.1
Poorthuis, B.J.2
Romme, A.E.3
Van De Kamp, J.J.4
Wagemaker, G.5
Van Bekkum, D.W.6
-
9
-
-
0023948528
-
Donor derived cells in the central nervous system of twitcher mice after bone marrow transplantation
-
Hoogerbrugge, P. M., Suzuki, K., Suzuki, K., Poorthuis, B. J. H. M., Kobayashi, T., Wagemaker, G., and Bekkum, D. W. V. (1988b). Donor derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 239: 1035-1038.
-
(1988)
Science
, vol.239
, pp. 1035-1038
-
-
Hoogerbrugge, P.M.1
Suzuki, K.2
Suzuki, K.3
Poorthuis, B.J.H.M.4
Kobayashi, T.5
Wagemaker, G.6
Bekkum, D.W.V.7
-
10
-
-
0023212302
-
Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): Effects on levels of galactosylceramidase, psychosine, and galactocerebrosides
-
Ichioka, T., Kishimoto, Y., Brennan, S., Santos, G. W., and Yeager, A. M. (1987). Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): Effects on levels of galactosylceramidase, psychosine, and galactocerebrosides. Proc. Natl. Acad. Sci. USA 84: 4259-4263.
-
(1987)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 4259-4263
-
-
Ichioka, T.1
Kishimoto, Y.2
Brennan, S.3
Santos, G.W.4
Yeager, A.M.5
-
11
-
-
0014950818
-
Globoid cell leukodystrophy in the cat
-
Johnson, K. J. (1970). Globoid cell leukodystrophy in the cat. J. Am. Vet. Med. Assoc. 157: 2057-2064.
-
(1970)
J. Am. Vet. Med. Assoc.
, vol.157
, pp. 2057-2064
-
-
Johnson, K.J.1
-
12
-
-
0019274883
-
The twitcher mouse: An enzymatically authentic murine model of human globoid cell leukodystrophy (Krabbe disease)
-
Kobayashi, T., Yamanaka, T., Jacobs, J. M., Teixera, F., and Suzuki, K (1980). The twitcher mouse: An enzymatically authentic murine model of human globoid cell leukodystrophy (Krabbe disease). Brain Res. 202: 479-483.
-
(1980)
Brain Res.
, vol.202
, pp. 479-483
-
-
Kobayashi, T.1
Yamanaka, T.2
Jacobs, J.M.3
Teixera, F.4
Suzuki, K.5
-
13
-
-
0024546509
-
The scanning model for translation: An update
-
Kozac, M. (1989). The scanning model for translation: An update. J. Cell Biol. 108: 229-241.
-
(1989)
J. Cell Biol.
, vol.108
, pp. 229-241
-
-
Kozac, M.1
-
14
-
-
0025734882
-
Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analyses of certain lysosomal disorders
-
Louie, E., Rafi, M. A., and Wenger, D. A. (1991). Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analyses of certain lysosomal disorders. Clin. Chim. Acta 199: 7-16.
-
(1991)
Clin. Chim. Acta
, vol.199
, pp. 7-16
-
-
Louie, E.1
Rafi, M.A.2
Wenger, D.A.3
-
15
-
-
0028958549
-
Structure and organization of the human galactocerebrosidase (GALC) gene. Geno
-
Luzi, P., Rafi, M. A., and Wenger, D. A. (1995a). Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26: 407-409.
-
(1995)
Mics
, vol.26
, pp. 407-409
-
-
Luzi, P.1
Rafi, M.A.2
Wenger, D.A.3
-
16
-
-
0028827824
-
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
-
Luzi, P., Rafi, M. A., and Wenger D. A. (1995b). Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum. Mol. Genet. 4: 2335-2338.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2335-2338
-
-
Luzi, P.1
Rafi, M.A.2
Wenger, D.A.3
-
17
-
-
0018952525
-
Globoid cell leukodystrophy in polled Dorset sheep
-
Pritchard, D. H., Napthine, D. V., and Sinclair, A. J. (1980). Globoid cell leukodystrophy in polled Dorset sheep. Vet. Pathol. 17: 399-405.
-
(1980)
Vet. Pathol.
, vol.17
, pp. 399-405
-
-
Pritchard, D.H.1
Napthine, D.V.2
Sinclair, A.J.3
-
18
-
-
0029156759
-
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease
-
Rafi, M. A., Luzi, P., Chen, Y. Q., and Wenger, D. A. (1995). A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum. Mol. Genet. 4: 1285-1289.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1285-1289
-
-
Rafi, M.A.1
Luzi, P.2
Chen, Y.Q.3
Wenger, D.A.4
-
19
-
-
0030221108
-
Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells
-
Rafi, M. A., Fugaro, J., Amini, S., Luzi, P., de Gala, G., Victoria, T., Dubell, C., Shahinfar, M., and Wenger, D. A. (1996). Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Biochem. Mol. Med. 58: 142-150.
-
(1996)
Biochem. Mol. Med.
, vol.58
, pp. 142-150
-
-
Rafi, M.A.1
Fugaro, J.2
Amini, S.3
Luzi, P.4
De Gala, G.5
Victoria, T.6
Dubell, C.7
Shahinfar, M.8
Wenger, D.A.9
-
20
-
-
13344286310
-
Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease
-
Sakai, N., Inui, K., Tatsumi, N., Fukushima, H., Nishigaki, T., Taniike, M., Nishimoto, J., Tsukamoto, H., Yanagihara, I., Ozono, K., and Okada, S. (1996). Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J. Neurochem. 66: 1118-1124.
-
(1996)
J. Neurochem.
, vol.66
, pp. 1118-1124
-
-
Sakai, N.1
Inui, K.2
Tatsumi, N.3
Fukushima, H.4
Nishigaki, T.5
Taniike, M.6
Nishimoto, J.7
Tsukamoto, H.8
Yanagihara, I.9
Ozono, K.10
Okada, S.11
-
21
-
-
0017681196
-
DNA sequencing with chain termination
-
Sanger, F., Nickelson, J., and Coulson, A. R. (1977). DNA sequencing with chain termination. Proc. Natl. Acad. Sci. USA 74: 5463-5467.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nickelson, J.2
Coulson, A.R.3
-
22
-
-
0001841358
-
Bone marrow transplantation as treatment for globoid cell leukodystrophy
-
(R. J. Desnick, Ed.), Churchill-Livingstone, New York
-
Shapiro, E., Lockman, L., Kennedy, W., Zimmerman, D., Kolodny, E., Raghavan, S., Wiederschain. G., Wenger, D. A., Sung, J. H., Summers, C. G., and Krivit, W. (1991). Bone marrow transplantation as treatment for globoid cell leukodystrophy. In "Treatment of Genetic Disease" (R. J. Desnick, Ed.), pp. 221-236, Churchill-Livingstone, New York.
-
(1991)
Treatment of Genetic Disease
, pp. 221-236
-
-
Shapiro, E.1
Lockman, L.2
Kennedy, W.3
Zimmerman, D.4
Kolodny, E.5
Raghavan, S.6
Wiederschain, G.7
Wenger, D.A.8
Sung, J.H.9
Summers, C.G.10
Krivit, W.11
-
23
-
-
77049309786
-
Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes
-
Skoog, W. A., and Beck, W. S. (1956). Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11: 436-454.
-
(1956)
Blood
, vol.11
, pp. 436-454
-
-
Skoog, W.A.1
Beck, W.S.2
-
24
-
-
0014806327
-
Globoid cell leukodystrophy (Krabbe's disease): Deficiency of galactocerebrosidase β-galactosidase
-
Suzuki, K., and Suzuki, Y. (1970). Globoid cell leukodystrophy (Krabbe's disease): Deficiency of galactocerebrosidase β-galactosidase. Proc. Natl. Acad. Sci. USA 66: 302-309.
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.66
, pp. 302-309
-
-
Suzuki, K.1
Suzuki, Y.2
-
25
-
-
0014857292
-
Studies in globoid cell leukodystrophy: Enzymatic and lipid findings in the canine form
-
Suzuki, Y., Austin, J., Armstrong, D., Suzuki, K., Schlenker, J., and Fletcher, T. (1970). Studies in globoid cell leukodystrophy: Enzymatic and lipid findings in the canine form. Exp. Neurol. 29: 65-75.
-
(1970)
Exp. Neurol.
, vol.29
, pp. 65-75
-
-
Suzuki, Y.1
Austin, J.2
Armstrong, D.3
Suzuki, K.4
Schlenker, J.5
Fletcher, T.6
-
26
-
-
0015214502
-
Krabbe's globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts
-
Suzuki, Y., and Suzuki, K. (1971). Krabbe's globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts. Science 171: 73-75.
-
(1971)
Science
, vol.171
, pp. 73-75
-
-
Suzuki, Y.1
Suzuki, K.2
-
27
-
-
0029943028
-
Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers
-
Victoria, T., Rafi, M. A., and Wenger, D. A. (1996). Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics 33: 457-462.
-
(1996)
Genomics
, vol.33
, pp. 457-462
-
-
Victoria, T.1
Rafi, M.A.2
Wenger, D.A.3
-
28
-
-
0001590529
-
Screening for lysosomal disorders
-
(F. A. Hommes, Ed.), Wiley-Liss, New York
-
Wenger, D. A., and Williams, C. (1991). Screening for lysosomal disorders. In "Techniques in Diagnostic Human Biochemical Genetics" (F. A. Hommes, Ed.), pp. 587-617, Wiley-Liss, New York.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics
, pp. 587-617
-
-
Wenger, D.A.1
Williams, C.2
-
29
-
-
0030964590
-
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
-
in press
-
Wenger, D. A., Rafi, M. A., and Luzi, P. (1997). Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications. Hum. Mutat., in press.
-
(1997)
Hum. Mutat.
-
-
Wenger, D.A.1
Rafi, M.A.2
Luzi, P.3
-
30
-
-
0021249707
-
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse
-
Yeager, A. M., Brennan, S., Tiffany, C., Moser, H. W., and Santos, G. W. (1984). Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science 225: 1053-1054.
-
(1984)
Science
, vol.225
, pp. 1053-1054
-
-
Yeager, A.M.1
Brennan, S.2
Tiffany, C.3
Moser, H.W.4
Santos, G.W.5
|