-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3421-3452.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease. 8th Ed.
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
0031745428
-
Murine MPS I: Insights into the pathogenesis of Hurler syndrome
-
Russel RC, Hendson G, Jevon G, et al. Murine MPS I: insights into the pathogenesis of Hurler syndrome. Clin Genet 1998;53:349-361.
-
(1998)
Clin Genet
, vol.53
, pp. 349-361
-
-
Russel, R.C.1
Hendson, G.2
Jevon, G.3
-
3
-
-
0018898897
-
Mucopolysaccharidosis IH, IS, II and IIIA: Glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues
-
Constantopoulos G, Iqbal K, Dekaban AS. Mucopolysaccharidosis IH, IS, II and IIIA: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues. J Neurochem 1980;34:1399-1411.
-
(1980)
J Neurochem
, vol.34
, pp. 1399-1411
-
-
Constantopoulos, G.1
Iqbal, K.2
Dekaban, A.S.3
-
4
-
-
0022217851
-
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease
-
Constantopoulos G, Shull RM, Hastings N, Neufeld EF. Neurochemical characterization of canine alpha-L-iduronidase deficiency disease. J Neurochem 1985;45:1213-1217.
-
(1985)
J Neurochem
, vol.45
, pp. 1213-1217
-
-
Constantopoulos, G.1
Shull, R.M.2
Hastings, N.3
Neufeld, E.F.4
-
5
-
-
0014352329
-
Hurler and Hunter syndromes: Mutual correction of the defect in cultured fibroblasts
-
Fratantoni J, Hall C, Neufeld E. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968;162:570-572.
-
(1968)
Science
, vol.162
, pp. 570-572
-
-
Fratantoni, J.1
Hall, C.2
Neufeld, E.3
-
6
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-188.
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
7
-
-
0024524979
-
Murine mucopolysaccharidosis type VII. Characterization of a mouse with β-glucuronidase deficiency
-
Birkenmeier EH, Davisson MT, Beamer WG, et al. Murine mucopolysaccharidosis type VII. Characterization of a mouse with β-glucuronidase deficiency. J Clin Invest 1989;83:1258-1266.
-
(1989)
J Clin Invest
, vol.83
, pp. 1258-1266
-
-
Birkenmeier, E.H.1
Davisson, M.T.2
Beamer, W.G.3
-
8
-
-
0141818018
-
Gene therapy for mucopolysaccharidosis
-
Bosch A, Heard JM. Gene therapy for mucopolysaccharidosis. Int Rev Neurobiol 2003;55:271-296.
-
(2003)
Int Rev Neurobiol
, vol.55
, pp. 271-296
-
-
Bosch, A.1
Heard, J.M.2
-
9
-
-
0026637316
-
Structure and function of the mannose-6-phosphate receptor/insuline growth factor II receptor
-
Kornfeld S. Structure and function of the mannose-6-phosphate receptor/insuline growth factor II receptor. Annu Rev Biochem 1992;61:307-330.
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 307-330
-
-
Kornfeld, S.1
-
10
-
-
0032980298
-
Alternative mechanism for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific
-
Dittmer F, Ulbrich EJ, Hafner A, et al. Alternative mechanism for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific. J Cell Sci 1999;112:1591-1597.
-
(1999)
J Cell Sci
, vol.112
, pp. 1591-1597
-
-
Dittmer, F.1
Ulbrich, E.J.2
Hafner, A.3
-
11
-
-
0028568013
-
Enzyme replacement in a canine model of Hurler syndrome
-
Shull RM, Kakkis ED, McEntee MF, et al. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA 1994;91:12937-12941.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 12937-12941
-
-
Shull, R.M.1
Kakkis, E.D.2
McEntee, M.F.3
-
12
-
-
0030221033
-
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
-
Kakkis ED, MaEntee MF, Schmidtchen A, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996;58:156-167.
-
(1996)
Biochem Mol Med
, vol.58
, pp. 156-167
-
-
Kakkis, E.D.1
MaEntee, M.F.2
Schmidtchen, A.3
-
13
-
-
0030902462
-
Adeno-associated virus (AAV) vector antisense gene transfer in vivo decreases GABA(A) alpha1 containing receptors and increases inferior collicular seizure sensitivity
-
Xiao X, McCown TJ, Li J, et al. Adeno-associated virus (AAV) vector antisense gene transfer in vivo decreases GABA(A) alpha1 containing receptors and increases inferior collicular seizure sensitivity. Brain Res 1997;756:76-83.
-
(1997)
Brain Res
, vol.756
, pp. 76-83
-
-
Xiao, X.1
McCown, T.J.2
Li, J.3
-
14
-
-
0028169741
-
Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain
-
Kaplitt MG, Leone P, Samulski RJ, et al. Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain. Nat Genet 1994;8:148-154.
-
(1994)
Nat Genet
, vol.8
, pp. 148-154
-
-
Kaplitt, M.G.1
Leone, P.2
Samulski, R.J.3
-
15
-
-
0033942230
-
Convection-enhanced delivery of AAV vector in parkinsonian monkeys; in vivo detection of gene expression and restoration of dopaminergic function using pro-drug approach
-
Bankiewicz KS, Eberling JL, Kohutnicka M, et al. Convection-enhanced delivery of AAV vector in parkinsonian monkeys; in vivo detection of gene expression and restoration of dopaminergic function using pro-drug approach. Exp Neurol 2000;164:2-14.
-
(2000)
Exp Neurol
, vol.164
, pp. 2-14
-
-
Bankiewicz, K.S.1
Eberling, J.L.2
Kohutnicka, M.3
-
16
-
-
0030003480
-
Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector
-
McCown TJ, Xiao X, Li J, et al. Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector. Brain Res 1996;713:99-107.
-
(1996)
Brain Res
, vol.713
, pp. 99-107
-
-
McCown, T.J.1
Xiao, X.2
Li, J.3
-
17
-
-
0034960344
-
Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo
-
Nakai H, Yant SR, Strom TA, et al. Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J Virol 2001;75:6969-6976.
-
(2001)
J Virol
, vol.75
, pp. 6969-6976
-
-
Nakai, H.1
Yant, S.R.2
Strom, T.A.3
-
18
-
-
0031779697
-
Adeno-associated virus vector-mediated transgene integration into neurons and other nondividing cell targets
-
Wu P, Phillips MI, Bui J, Terwilliger EF. Adeno-associated virus vector-mediated transgene integration into neurons and other nondividing cell targets. J Virol 1998;72:5919-5926.
-
(1998)
J Virol
, vol.72
, pp. 5919-5926
-
-
Wu, P.1
Phillips, M.I.2
Bui, J.3
Terwilliger, E.F.4
-
19
-
-
0038618702
-
Intraventricular brain injection of adeno-associated virus type 1 (AAV1) in neonatal mice results in complementary patterns of neuronal transduction to AAV2 and total long-term correction of storage lesions in the brains of beta-glucuronidase-deficient mice
-
Passini MA, Watson DJ, Vite CH, et al. Intraventricular brain injection of adeno-associated virus type 1 (AAV1) in neonatal mice results in complementary patterns of neuronal transduction to AAV2 and total long-term correction of storage lesions in the brains of beta-glucuronidase-deficient mice. J Virol 2003;77:7034-7040.
-
(2003)
J Virol
, vol.77
, pp. 7034-7040
-
-
Passini, M.A.1
Watson, D.J.2
Vite, C.H.3
-
20
-
-
0034724209
-
Recombinant adeno-associated virus type 2, 4, and 5 vectors: Transduction of variant cell types and regions in the mammalian central nervous system
-
Davidson BL, Stein CS, Heth JA, et al. Recombinant adeno-associated virus type 2, 4, and 5 vectors: transduction of variant cell types and regions in the mammalian central nervous system. Proc Natl Acad Sci USA 2000;97:3428-3432.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3428-3432
-
-
Davidson, B.L.1
Stein, C.S.2
Heth, J.A.3
-
21
-
-
0030899669
-
Murine mucopolysaccaridosis type I: Targeted disruption of the murine alpha-L-iduronidase gene
-
Clarke LA, Russel CS, Pownall S, et al. Murine mucopolysaccaridosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Hum Mol Genet 1997;6:503-511.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 503-511
-
-
Clarke, L.A.1
Russel, C.S.2
Pownall, S.3
-
22
-
-
0042464523
-
Treatment of the mouse model of MPSI by transplantation of bone marrow and of genetically modified bone marrow
-
Zheng Y, Zhou J, Rozengurt N, et al. Treatment of the mouse model of MPSI by transplantation of bone marrow and of genetically modified bone marrow. Am J Hum Genet 2001;69(suppl):679.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL.
, pp. 679
-
-
Zheng, Y.1
Zhou, J.2
Rozengurt, N.3
-
23
-
-
0023216839
-
A recombinant plasmid from which an infectious adeno-associated virus genome can be excised in vitro and its use to study viral replication
-
Samulski RJ, Chang LS, Shenk T. A recombinant plasmid from which an infectious adeno-associated virus genome can be excised in vitro and its use to study viral replication. J Virol 1987;61:3096-3101.
-
(1987)
J Virol
, vol.61
, pp. 3096-3101
-
-
Samulski, R.J.1
Chang, L.S.2
Shenk, T.3
-
24
-
-
0032959311
-
Cloning and characterization of adeno-associated virus type 5
-
Chiorini JA, Kim F, Yang L, Kotin RM. Cloning and characterization of adeno-associated virus type 5. J Virol 1999;73:1309-1319.
-
(1999)
J Virol
, vol.73
, pp. 1309-1319
-
-
Chiorini, J.A.1
Kim, F.2
Yang, L.3
Kotin, R.M.4
-
25
-
-
0023551350
-
Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter
-
Adra CN, Boer PH, McBurney M. Cloning and expression of the mouse pgk-1 gene and the nucleotide sequence of its promoter. Gene 1987;60:65-74.
-
(1987)
Gene
, vol.60
, pp. 65-74
-
-
Adra, C.N.1
Boer, P.H.2
McBurney, M.3
-
26
-
-
0028872144
-
In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs
-
Salvetti A, Moullier P, Cornet V, et al. In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs. Hum Gene Ther 1995;6:1153-1159.
-
(1995)
Hum Gene Ther
, vol.6
, pp. 1153-1159
-
-
Salvetti, A.1
Moullier, P.2
Cornet, V.3
-
27
-
-
0032978712
-
Woodchuck hepatitis virus posttranscriptional regulatory element enhances expression of transgenes delivered by retroviral vectors
-
Zufferey R, Donello JE, Trono D, Hope TJ. Woodchuck hepatitis virus posttranscriptional regulatory element enhances expression of transgenes delivered by retroviral vectors. J Virol 1999;73:2886-2892.
-
(1999)
J Virol
, vol.73
, pp. 2886-2892
-
-
Zufferey, R.1
Donello, J.E.2
Trono, D.3
Hope, T.J.4
-
28
-
-
0026742969
-
The 3' flanking sequence of the bovine growth hormone gene contains novel elements required for efficient and accurate polyadenylation
-
Goodwin E, Rottman F. The 3' flanking sequence of the bovine growth hormone gene contains novel elements required for efficient and accurate polyadenylation. J Biol Chem 1992;267:16330-16334.
-
(1992)
J Biol Chem
, vol.267
, pp. 16330-16334
-
-
Goodwin, E.1
Rottman, F.2
-
29
-
-
0032506752
-
Novel tools for production and purification of recombinant adeno-associated virus vectors
-
Grimm D, Kern A, Rittner K, Kleinschmidt J. Novel tools for production and purification of recombinant adeno-associated virus vectors. Hum Gene Ther 1998;9:2745-2760.
-
(1998)
Hum Gene Ther
, vol.9
, pp. 2745-2760
-
-
Grimm, D.1
Kern, A.2
Rittner, K.3
Kleinschmidt, J.4
-
30
-
-
0036852208
-
A versatile and scalable two-step ion-exchange chromatography process for the purification of recombinant adeno-associated virus serotypes -2 and -5
-
Brument N, Morenweiser R, Blouin V, et al. A versatile and scalable two-step ion-exchange chromatography process for the purification of recombinant adeno-associated virus serotypes -2 and -5. Mol Ther 2002;6:678-686.
-
(2002)
Mol Ther
, vol.6
, pp. 678-686
-
-
Brument, N.1
Morenweiser, R.2
Blouin, V.3
-
31
-
-
2642642141
-
Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus
-
Xiao X, Li J, Samulski RJ. Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J Virol 1998;72:2224-2232.
-
(1998)
J Virol
, vol.72
, pp. 2224-2232
-
-
Xiao, X.1
Li, J.2
Samulski, R.J.3
-
32
-
-
0033022953
-
Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield
-
Zolotukhin S, Byrne BJ, Mason E, et al. Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Ther 1999;6:973-985.
-
(1999)
Gene Ther
, vol.6
, pp. 973-985
-
-
Zolotukhin, S.1
Byrne, B.J.2
Mason, E.3
-
33
-
-
0032549488
-
Factors influencing recombinant adeno-associated virus production
-
Salvetti A, Orève S, Chadeuf G, et al. Factors influencing recombinant adeno-associated virus production. Hum Gene Ther 1998;9:695-706.
-
(1998)
Hum Gene Ther
, vol.9
, pp. 695-706
-
-
Salvetti, A.1
Orève, S.2
Chadeuf, G.3
-
34
-
-
0037452606
-
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB
-
Ohmi K, Greenberg DS, Rajavel K, et al. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 2003;100:1902-1907.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 1902-1907
-
-
Ohmi, K.1
Greenberg, D.S.2
Rajavel, K.3
-
35
-
-
0028449393
-
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells
-
Kakkis ED, Matynia A, Jonas AJ, Neufeld EF. Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expt Putif 1994;5:225-232.
-
(1994)
Protein Expt Putif
, vol.5
, pp. 225-232
-
-
Kakkis, E.D.1
Matynia, A.2
Jonas, A.J.3
Neufeld, E.F.4
-
36
-
-
0029982572
-
Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
-
Fujita N, Suzuki K, Vanier MT, et al. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet 1996;5:711-725.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 711-725
-
-
Fujita, N.1
Suzuki, K.2
Vanier, M.T.3
-
37
-
-
0023320241
-
Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reverse-phase columns
-
Kyrklund T. Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reverse-phase columns. Lipids 1987;22:274-277.
-
(1987)
Lipids
, vol.22
, pp. 274-277
-
-
Kyrklund, T.1
-
38
-
-
0034088881
-
Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse
-
Sferra TJ, Qu G, McNeely D, et al. Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse. Hum Gene Ther 2000;11:507-519.
-
(2000)
Hum Gene Ther
, vol.11
, pp. 507-519
-
-
Sferra, T.J.1
Qu, G.2
McNeely, D.3
-
39
-
-
0033642895
-
Long-term and significant correction of brain lesions in adult mucopolysaccharidosis type VII mice using recombinant AAV vectors
-
Bosch A, Perret E, Desmaris N, Heard JM. Long-term and significant correction of brain lesions in adult mucopolysaccharidosis type VII mice using recombinant AAV vectors. Mol Ther 2000;1:63-70.
-
(2000)
Mol Ther
, vol.1
, pp. 63-70
-
-
Bosch, A.1
Perret, E.2
Desmaris, N.3
Heard, J.M.4
-
40
-
-
0032758906
-
Sustained production of β-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in mucopolysaccharidosis VII mice
-
Skorupa AF, Fischer KJ, Wilson JM, et al. Sustained production of β-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in mucopolysaccharidosis VII mice. Exp Neurol 1999;160:17-27.
-
(1999)
Exp Neurol
, vol.160
, pp. 17-27
-
-
Skorupa, A.F.1
Fischer, K.J.2
Wilson, J.M.3
-
41
-
-
18344368012
-
Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors
-
Brooks AI, Stein CS, Hughes SM, et al. Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors. Proc Natl Acad Sci USA 2002;99:6216-6221.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6216-6221
-
-
Brooks, A.I.1
Stein, C.S.2
Hughes, S.M.3
-
42
-
-
0034690714
-
Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer
-
Bosch A, Perret E, Desmaris N, et al. Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer. Hum Gene Ther 2000;11:1139-1150.
-
(2000)
Hum Gene Ther
, vol.11
, pp. 1139-1150
-
-
Bosch, A.1
Perret, E.2
Desmaris, N.3
-
43
-
-
0032213413
-
Extensive B-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain
-
Ghodsi A, Stein C, Derksen T, et al. Extensive B-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain. Hum Gene Ther 1998;9:2331-2340.
-
(1998)
Hum Gene Ther
, vol.9
, pp. 2331-2340
-
-
Ghodsi, A.1
Stein, C.2
Derksen, T.3
-
44
-
-
0034941801
-
The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors
-
Xia H, Mao Q, Davidson BL. The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors. Nat Biotechnol 2001;19:640-644.
-
(2001)
Nat Biotechnol
, vol.19
, pp. 640-644
-
-
Xia, H.1
Mao, Q.2
Davidson, B.L.3
-
45
-
-
0033670210
-
Somatic gene therapy for a neurodegenerative disease using microencapsulated recombinant cells
-
Ross CJ, Ralph M, Chang PL. Somatic gene therapy for a neurodegenerative disease using microencapsulated recombinant cells. Exp Neurol 2000;166:276-286.
-
(2000)
Exp Neurol
, vol.166
, pp. 276-286
-
-
Ross, C.J.1
Ralph, M.2
Chang, P.L.3
-
46
-
-
0032982480
-
Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector
-
Elliger SS, Elliger CA, Aguilar CP, et al. Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector. Gene Ther 1999;6:1175-1178.
-
(1999)
Gene Ther
, vol.6
, pp. 1175-1178
-
-
Elliger, S.S.1
Elliger, C.A.2
Aguilar, C.P.3
-
47
-
-
0036154761
-
Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIb mouse model by adeno-associated virus-mediated gene delivery
-
Fu H, Samulski RJ, McCown TJ, et al. Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIb mouse model by adeno-associated virus-mediated gene delivery. Mol Ther 2002;5:42-49.
-
(2002)
Mol Ther
, vol.5
, pp. 42-49
-
-
Fu, H.1
Samulski, R.J.2
McCown, T.J.3
-
48
-
-
0035099437
-
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice
-
Consiglio A, Quattrini A, Martino S, et al. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Nat Med 2001;7:310-316.
-
(2001)
Nat Med
, vol.7
, pp. 310-316
-
-
Consiglio, A.1
Quattrini, A.2
Martino, S.3
-
49
-
-
0027412209
-
Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter
-
Flotte JR, Afione SA, Slow R, et al. Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter. J Biol Chem 1993;268:3781-3790.
-
(1993)
J Biol Chem
, vol.268
, pp. 3781-3790
-
-
Flotte, J.R.1
Afione, S.A.2
Slow, R.3
-
50
-
-
0025769357
-
Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
-
Walkley SU, Baker HJ, Rattazzi MC, et al. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J Neurol Sci 1991;104:1-8.
-
(1991)
J Neurol Sci
, vol.104
, pp. 1-8
-
-
Walkley, S.U.1
Baker, H.J.2
Rattazzi, M.C.3
-
51
-
-
0030782030
-
Apoptotic cell death in mouse models of GM2 gangliosidosis and observation on human Tay-Sachs and Sandhoff diseases
-
Huang JQ, Trasler JM, Igdoura S, et al. Apoptotic cell death in mouse models of GM2 gangliosidosis and observation on human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 1997;6:1879-1885.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1879-1885
-
-
Huang, J.Q.1
Trasler, J.M.2
Igdoura, S.3
-
52
-
-
0023895089
-
Alterations in neuron morphology in mucopolysaccharidosis type I
-
Walkley SU, Haskins ME, Shull R. Alterations in neuron morphology in mucopolysaccharidosis type I. Acta Neuropathol 1988;75:611-620.
-
(1988)
Acta Neuropathol
, vol.75
, pp. 611-620
-
-
Walkley, S.U.1
Haskins, M.E.2
Shull, R.3
-
53
-
-
0026580688
-
Immunoquatification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal and controls and mucopolysaccharidosis type I patients
-
Ashton LJ, Brooks DA, McCourt PAG, et al. Immunoquatification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal and controls and mucopolysaccharidosis type I patients. Am J Hum Genet 1992;50:787-794.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 787-794
-
-
Ashton, L.J.1
Brooks, D.A.2
McCourt, P.A.G.3
-
54
-
-
0020425057
-
Canine α-L-iduronidase deficiency: A model of mucopolysaccharidosis I
-
Shull RM, Munger RJ, Spellacy E, et al. Canine α-L-iduronidase deficiency: a model of mucopolysaccharidosis I. Am J Pathol 1982;109:244-248.
-
(1982)
Am J Pathol
, vol.109
, pp. 244-248
-
-
Shull, R.M.1
Munger, R.J.2
Spellacy, E.3
|