-
1
-
-
0001437175
-
Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis, and sialidosis
-
In. edn. Eds. S.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle. New York: McGraw-Hill
-
Thomas GH. Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis, and sialidosis. In The Metabolic Basis of Inherited Disease, 8th edn. Eds SR Scriver, AL Beaudet, WS Sly, D Valle. New York : McGraw-Hill, 2001 3507 34
-
(2001)
The Metabolic Basis of Inherited Disease, 8th
, pp. 3507-34
-
-
Thomas, G.H.1
-
2
-
-
0035977948
-
Recent progress in lysosomal α-mannosidosis and its deficiency
-
Sun H, Wolfe JH. Recent progress in lysosomal α-mannosidosis and its deficiency. Exp Mol Med 2001 33 : 1 7
-
(2001)
Exp Mol Med
, vol.33
, pp. 1-7
-
-
Sun, H.1
Wolfe, J.H.2
-
5
-
-
2342551124
-
Effective treatment of alpha-mannosidosis by allogenic hematopoietic stem cell transplantation
-
Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchrad PJ, Wagner JE, Peters C. Effective treatment of alpha-mannosidosis by allogenic hematopoietic stem cell transplantation. J Pediatr 2004 144 : 569 73
-
(2004)
J Pediatr
, vol.144
, pp. 569-73
-
-
Grewal, S.S.1
Shapiro, E.G.2
Krivit, W.3
Charnas, L.4
Lockman, L.A.5
Delaney, K.A.6
Davies, S.M.7
Wenger, D.A.8
Rimell, F.L.9
Abel, S.10
Grovas, A.C.11
Orchrad, P.J.12
Wagner, J.E.13
Peters, C.14
-
6
-
-
10744221733
-
T-cell depleted peripheral blood stem cell transplantation for alpha-mannosidosis
-
Albert MH, Schuster F, Peters C, Schulze S, Pontz BF, Muntau AC, Roschinger W, Stachel DK, Enders A, Hass RJ, Schmid I. T-cell depleted peripheral blood stem cell transplantation for alpha-mannosidosis. Bone Marrow Transplant 2003 32 : 443 6
-
(2003)
Bone Marrow Transplant
, vol.32
, pp. 443-6
-
-
Albert, M.H.1
Schuster, F.2
Peters, C.3
Schulze, S.4
Pontz, B.F.5
Muntau, A.C.6
Roschinger, W.7
Stachel, D.K.8
Enders, A.9
Hass, R.J.10
Schmid, I.11
-
7
-
-
0031928891
-
Bone marrow transplantation for the treatment of alpha-mannosidosis
-
Wall DA, Grange DK, Goulding P, Daines M, Luisiri A, Kotogal S. Bone marrow transplantation for the treatment of alpha-mannosidosis. J Pediatr 1998 133 : 282 5
-
(1998)
J Pediatr
, vol.133
, pp. 282-5
-
-
Wall, D.A.1
Grange, D.K.2
Goulding, P.3
Daines, M.4
Luisiri, A.5
Kotogal, S.6
-
8
-
-
0023638741
-
Bone marrow transplantation in the treatment of α-mannosidosis
-
Will A, Cooper A, Hatton C, Sardharwalla IB, Evans DI, Stevens RF. Bone marrow transplantation in the treatment of α-mannosidosis. Arch Dis Child 1987 62 : 1044 9
-
(1987)
Arch Dis Child
, vol.62
, pp. 1044-9
-
-
Will, A.1
Cooper, A.2
Hatton, C.3
Sardharwalla, I.B.4
Evans, D.I.5
Stevens, R.F.6
-
9
-
-
0028324026
-
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease
-
Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA, Wurzelmann S. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 1994 91 : 2970 4
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 2970-4
-
-
Walkley, S.U.1
Thrall, M.A.2
Dobrenis, K.3
Huang, M.4
March, P.A.5
Siegel, D.A.6
Wurzelmann, S.7
-
10
-
-
0344329883
-
Targeted disruption of the lysosomal α-mannosidase gene results in mice resembling a milder form of human α-mannosidosis
-
Stinchi S, Lullmann-Rauch R, Hartmann D, Coenen R, Beccari T, Orlacchi A, von Figura K, Saftig P. Targeted disruption of the lysosomal α-mannosidase gene results in mice resembling a milder form of human α-mannosidosis. Hum Mol Genet 1999 8 : 1365 72
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1365-72
-
-
Stinchi, S.1
Lullmann-Rauch, R.2
Hartmann, D.3
Coenen, R.4
Beccari, T.5
Orlacchi, A.6
Von Figura, K.7
Saftig, P.8
-
12
-
-
0030981345
-
The mannosidosis and ceroid-lipofuscinoses: Experimental studies on two types of storage disease
-
Jolly RD. The mannosidosis and ceroid-lipofuscinoses: experimental studies on two types of storage disease. Pathology 1997 29 : 51 6
-
(1997)
Pathology
, vol.29
, pp. 51-6
-
-
Jolly, R.D.1
-
13
-
-
0032744328
-
Alpha-mannosidosis in the guinea pig: A new animal model for lysosomal storage disorders
-
Crawley AC, Jones MZ, Bonning LE, Finnie JW, Hopwood JJ. Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. Pediatr Res 1999 46 : 501 9
-
(1999)
Pediatr Res
, vol.46
, pp. 501-9
-
-
Crawley, A.C.1
Jones, M.Z.2
Bonning, L.E.3
Finnie, J.W.4
Hopwood, J.J.5
-
14
-
-
34548545332
-
Abnormal brainstem and somatosensory evoked responses in α-mannosidosis guinea pigs
-
(467-O)
-
Crawley AC, Weston PF, Hopwood JJ. Abnormal brainstem and somatosensory evoked responses in α-mannosidosis guinea pigs. J Inherit Metab Dis 2000 23 (Suppl. 1 234 (467-O)
-
(2000)
J Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 234
-
-
Crawley, A.C.1
Weston, P.F.2
Hopwood, J.J.3
-
16
-
-
0031973893
-
Cellular pathology of lysosomal storage disorders
-
Walkley SU. Cellular pathology of lysosomal storage disorders. Brain Pathol 1998 8 : 175 93
-
(1998)
Brain Pathol
, vol.8
, pp. 175-93
-
-
Walkley, S.U.1
-
17
-
-
2942662184
-
Chap 12: Pathogenic cascades and brain dysfunction
-
In. F.M. Platt, S.U. Walkley. Oxford University
-
Walkley SU. Chap 12: pathogenic cascades and brain dysfunction. In Lysosomal Disorders of the Brain. FM Platt, SU Walkley. Oxford University, 2004 290 324
-
(2004)
Lysosomal Disorders of the Brain.
, pp. 290-324
-
-
Walkley, S.U.1
-
18
-
-
0021592237
-
Beta-mannosidosis: Prenatal, biochemical and morphological characteristics
-
Jones MZ, Rathke EJS, Cavanagh K. Beta-mannosidosis: prenatal, biochemical and morphological characteristics. J Inherit Metab Dis 1984 7 : 80 5
-
(1984)
J Inherit Metab Dis
, vol.7
, pp. 80-5
-
-
Jones, M.Z.1
Rathke, E.J.S.2
Cavanagh, K.3
-
19
-
-
0030943834
-
Biochemical and morphological expression of early prenatal caprine β-mannoidosis
-
Lovell KL, Matsuura F, Patterson J, Baeverfjord G, Ames NK, Jones MZ. Biochemical and morphological expression of early prenatal caprine β-mannoidosis. Prenat Diagn 1997 1 : 551 7
-
(1997)
Prenat Diagn
, vol.1
, pp. 551-7
-
-
Lovell, K.L.1
Matsuura, F.2
Patterson, J.3
Baeverfjord, G.4
Ames, N.K.5
Jones, M.Z.6
-
20
-
-
25444456102
-
Caprine mucopolysaccharidosis IIID: Fetal and neonatal brain and liver glycoaminoglycans and morphological perturbations
-
Jones MZ, Alroy J, Downs-Kelly E, Lucas RE, Kraemer SA, Cavanagh KT, King B, Hopwood JJ. Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycoaminoglycans and morphological perturbations. J Mol Neurosci 2004 24 : 277 92
-
(2004)
J Mol Neurosci
, vol.24
, pp. 277-92
-
-
Jones, M.Z.1
Alroy, J.2
Downs-Kelly, E.3
Lucas, R.E.4
Kraemer, S.A.5
Cavanagh, K.T.6
King, B.7
Hopwood, J.J.8
-
21
-
-
0034124919
-
Mucopolysaccharidosis type VII in the developing mouse fetus
-
Casal ML, Wolfe JH. Mucopolysaccharidosis type VII in the developing mouse fetus. Pediatr Res 2000 47 : 750 6
-
(2000)
Pediatr Res
, vol.47
, pp. 750-6
-
-
Casal, M.L.1
Wolfe, J.H.2
-
22
-
-
0032850202
-
Abnormalities of developing white matter in lysosomal storage diseases
-
Folkerth RD. Abnormalities of developing white matter in lysosomal storage diseases. J Neuropathol Exp Neurol 1999 58 : 887 902
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 887-902
-
-
Folkerth, R.D.1
-
23
-
-
0037117308
-
α-Mannosidosis in the guinea pig: Cloning of the lysosomal α-Mannosidosis cDNA and identification of a missense mutation causing α-mannosidosis
-
Berg T, Hopwood JJ. α-Mannosidosis in the guinea pig: cloning of the lysosomal α-Mannosidosis cDNA and identification of a missense mutation causing α-mannosidosis. Biochim Biophys Acta 2001 1586 : 169 76
-
(2001)
Biochim Biophys Acta
, vol.1586
, pp. 169-76
-
-
Berg, T.1
Hopwood, J.J.2
-
26
-
-
1542373666
-
Microglia, macrophages, perivascular macrophages, and pericytes: A review of function and identification
-
Guillemin GJ, Brew BJ. Microglia, macrophages, perivascular macrophages, and pericytes: a review of function and identification. J Leukoc Biol 2004 75 : 388 97
-
(2004)
J Leukoc Biol
, vol.75
, pp. 388-97
-
-
Guillemin, G.J.1
Brew, B.J.2
-
27
-
-
22244476066
-
Neurocognitive and psychotiform behavioural alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis
-
D'Hooge R, Lullmann-Rauch R, Beckers T, Balschun D, Schwake M, Reiss K, von Figura K, Saftig P. Neurocognitive and psychotiform behavioural alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. J Neurosci 2005 25 : 6539 49
-
(2005)
J Neurosci
, vol.25
, pp. 6539-49
-
-
D'Hooge, R.1
Lullmann-Rauch, R.2
Beckers, T.3
Balschun, D.4
Schwake, M.5
Reiss, K.6
Von Figura, K.7
Saftig, P.8
-
28
-
-
0025026139
-
The effects of intrauterine growth retardation on the development of neuroglia in fetal guinea pigs. An immunohistochemical and an ultrastructural study
-
Nitsos I, Rees S. The effects of intrauterine growth retardation on the development of neuroglia in fetal guinea pigs. An immunohistochemical and an ultrastructural study. Int J Dev Neurosci 1990 8 : 233 44
-
(1990)
Int J Dev Neurosci
, vol.8
, pp. 233-44
-
-
Nitsos, I.1
Rees, S.2
-
29
-
-
0029154539
-
Phospholipid molecular species composition of developing fetal guinea pig brain
-
Burge GC, Postle AD. Phospholipid molecular species composition of developing fetal guinea pig brain. Lipids 1995 30 : 719 24
-
(1995)
Lipids
, vol.30
, pp. 719-24
-
-
Burge, G.C.1
Postle, A.D.2
-
30
-
-
0034915042
-
Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis
-
Vite CH, McGowan JC, Braund KG, Drobatz KJ, Glickson JD, Wolfe JH, Haskins ME. Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. J Neuropathol Exp Neurol 2001 60 : 817 28
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, pp. 817-28
-
-
Vite, C.H.1
McGowan, J.C.2
Braund, K.G.3
Drobatz, K.J.4
Glickson, J.D.5
Wolfe, J.H.6
Haskins, M.E.7
-
31
-
-
8644249036
-
Adult alpha-mannosidosis: Clinical progression in the absence of demyelination
-
Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM. Adult alpha-mannosidosis: clinical progression in the absence of demyelination. Neurology 2004 63 : 1744 6
-
(2004)
Neurology
, vol.63
, pp. 1744-6
-
-
Gutschalk, A.1
Harting, I.2
Cantz, M.3
Springer, C.4
Rohrschneider, K.5
Meinck, H.M.6
-
32
-
-
0023682972
-
Brain development in the fetus, neonate and infant
-
Herschkowitz N. Brain development in the fetus, neonate and infant. Biol Neonate 1988 54 : 1 19
-
(1988)
Biol Neonate
, vol.54
, pp. 1-19
-
-
Herschkowitz, N.1
-
33
-
-
0036527293
-
Cell proliferation and apoptosis during histogenesis of the guinea pig and rabbit cerebellar cortex
-
Lossi L, Coli A, Giannessi E, Stornelli MR, Marroni P. Cell proliferation and apoptosis during histogenesis of the guinea pig and rabbit cerebellar cortex. Ital J Anat Embryol 2002 107 : 117 25
-
(2002)
Ital J Anat Embryol
, vol.107
, pp. 117-25
-
-
Lossi, L.1
Coli, A.2
Giannessi, E.3
Stornelli, M.R.4
Marroni, P.5
-
34
-
-
0026544623
-
The induction of neural tube defects by maternal hyperthermia: A comparison of the guinea pig and human
-
Smith MS, Upfold JB, Edwards MJ, Shiota K, Cawdell-Smith J. The induction of neural tube defects by maternal hyperthermia: a comparison of the guinea pig and human. Neuropathol Appl Neurobiol 1992 18 : 71 80
-
(1992)
Neuropathol Appl Neurobiol
, vol.18
, pp. 71-80
-
-
Smith, M.S.1
Upfold, J.B.2
Edwards, M.J.3
Shiota, K.4
Cawdell-Smith, J.5
-
35
-
-
0034902291
-
Effect of prenatal ethanol exposure during the brain growth spurt of the guinea pig
-
Byrnes ML, Reynolds JN, Brien JF. Effect of prenatal ethanol exposure during the brain growth spurt of the guinea pig. Neurotoxicol Teratol 2001 23 : 355 64
-
(2001)
Neurotoxicol Teratol
, vol.23
, pp. 355-64
-
-
Byrnes, M.L.1
Reynolds, J.N.2
Brien, J.F.3
-
36
-
-
0029046122
-
Ontogenesis of goal-directed behaviour: Anatomo-functional considerations
-
Kostovic I, Judas M, Petajek Z, Simic G. Ontogenesis of goal-directed behaviour: anatomo-functional considerations. Int J Psychophysiol 1995 19 : 85 102
-
(1995)
Int J Psychophysiol
, vol.19
, pp. 85-102
-
-
Kostovic, I.1
Judas, M.2
Petajek, Z.3
Simic, G.4
-
37
-
-
0242383276
-
Structural and functional maturation of the developing primate brain
-
Levitt P. Structural and functional maturation of the developing primate brain. J Pediatr 2003 143 : S35 45
-
(2003)
J Pediatr
, vol.143
-
-
Levitt, P.1
|