-
1
-
-
0015385593
-
The defect in the Hurler and Scheie syndromes: Deficiency of -L-iduronidase
-
Bach G, Friedman R, Weissmann B et al (1972) The defect in the Hurler and Scheie syndromes: Deficiency of -L-iduronidase. Proc Natl Acad Sci U S A 69:2048-2051
-
(1972)
Proc Natl Acad Sci U S A
, vol.69
, pp. 2048-2051
-
-
Bach, G.1
Friedman, R.2
Weissmann, B.3
-
2
-
-
11444253752
-
Prediction of neuropathology in mucopolysaccharidosis I patients
-
DOI 10.1016/j.ymgme.2004.09.004, PII S1096719204002434
-
Fuller M, Brooks DA, Evangelista M et al (2005) Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab 84:18-24 (Pubitemid 40082601)
-
(2005)
Molecular Genetics and Metabolism
, vol.84
, Issue.1
, pp. 18-24
-
-
Fuller, M.1
Brooks, D.A.2
Evangelista, M.3
Hein, L.K.4
Hopwood, J.J.5
Meikle, P.J.6
-
3
-
-
33846198829
-
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
-
DOI 10.1016/j.ymgme.2006.08.007, PII S1096719206002873
-
Sifuentes M, Doroshow R, Hoft R et al (2007) A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90:171-180 (Pubitemid 46108607)
-
(2007)
Molecular Genetics and Metabolism
, vol.90
, Issue.2
, pp. 171-180
-
-
Sifuentes, M.1
Doroshow, R.2
Hoft, R.3
Mason, G.4
Walot, I.5
Diament, M.6
Okazaki, S.7
Huff, K.8
Cox, G.F.9
Swiedler, S.J.10
Kakkis, E.D.11
-
4
-
-
0017290496
-
The mucopolysaccharidoses and mucolipidoses
-
Kelly TE (1976) The mucopolysaccharidoses and mucolipidoses. Clin Orthop Relat Res 116-133
-
(1976)
Clin Orthop Relat Res
, pp. 116-133
-
-
Kelly, T.E.1
-
5
-
-
0012164452
-
Gargoylism; a mucopolysaccharidosis
-
Brante G (1952) Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest 4:43-46
-
(1952)
Scand J Clin Lab Invest
, vol.4
, pp. 43-46
-
-
Brante, G.1
-
6
-
-
0013991053
-
Clinical definition of the Hurler- Hunter phenotypes. A review of 50 patients
-
Leroy JG, Crocker AC (1966) Clinical definition of the Hurler- Hunter phenotypes. A review of 50 patients. Am J Dis Child 112: 518-530
-
(1966)
Am J Dis Child
, vol.112
, pp. 518-530
-
-
Leroy, J.G.1
Crocker, A.C.2
-
7
-
-
0041524060
-
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
-
DOI 10.1097/01.GIM.0000078027.83236.49
-
Terlato NJ, Cox GF (2003) Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med 5:286-294 (Pubitemid 36998686)
-
(2003)
Genetics in Medicine
, vol.5
, Issue.4
, pp. 286-294
-
-
Terlato, N.J.1
Cox, G.F.2
-
8
-
-
0014674910
-
Beta-galactosidase deficiency in the hurler syndrome
-
MacBrinn M, Okada S, Woollacott M et al (1969) Beta-galactosidase deficiency in the hurler syndrome. N Engl J Med 281: 338-343
-
(1969)
N Engl J Med
, vol.281
, pp. 338-343
-
-
MacBrinn, M.1
Okada, S.2
Woollacott, M.3
-
9
-
-
0014568358
-
Hurler's disease: A clinical and biochemical study of a case
-
Abraham J, Chakrapani B, Singh M et al (1969) Hurler's disease: A clinical and biochemical study of a case. Indian J Med Res 57:1761-1766
-
(1969)
Indian J Med Res
, vol.57
, pp. 1761-1766
-
-
Abraham, J.1
Chakrapani, B.2
Singh, M.3
-
10
-
-
0015787154
-
Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus
-
Crawfurd M, Dean MF, Hunt DM et al (1973) Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus. J Med Genet 10:144-153
-
(1973)
J Med Genet
, vol.10
, pp. 144-153
-
-
Crawfurd, M.1
Dean, M.F.2
Hunt, D.M.3
-
11
-
-
80755124687
-
Gargoylism (chondro-osteo-dystrophy, corneal opacities, hepatosplenomegaly, and mental deficiency
-
Ellis RW (1936) Gargoylism (chondro-osteo-dystrophy, corneal opacities, hepatosplenomegaly, and mental deficiency). Proc R Soc Med 30:158-160
-
(1936)
Proc R Soc Med
, vol.30
, pp. 158-160
-
-
Ellis, R.W.1
-
12
-
-
80755183079
-
Familial mental deficiency akin to amaurotic idiocy and gargoylism An apparently new type
-
Jervis GA (1942) Familial mental deficiency akin to amaurotic idiocy and gargoylism. An apparently new type. Arch Neurol Psychiatry 47:943-961
-
(1942)
Arch Neurol Psychiatry
, vol.47
, pp. 943-961
-
-
Jervis, G.A.1
-
13
-
-
0013905723
-
Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism
-
Booth DA, Goodwin H, Cumings JN (1966) Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism. J Lipid Res 7:337-340
-
(1966)
J Lipid Res
, vol.7
, pp. 337-340
-
-
Booth, D.A.1
Goodwin, H.2
Cumings, J.N.3
-
15
-
-
0018095841
-
Neurochemistry of the mucopolysaccharidoses: Brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls
-
Constantopoulos G, Dekaban AS (1978) Neurochemistry of the mucopolysaccharidoses: Brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls. J Neurochem 30:965-973 (Pubitemid 8367682)
-
(1978)
Journal of Neurochemistry
, vol.30
, Issue.5
, pp. 965-973
-
-
Constantopoulos, G.1
Dekaban, A.S.2
-
16
-
-
76549219330
-
Structure Comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis. I
-
Ledeen R, Salsman K, Gonatas J et al (1965) Structure Comparison of the major monosialogangliosides from brains of normal human, gargoylism, and late infantile systemic lipidosis. I. J Neuropathol Exp Neurol 24:341-351
-
(1965)
J Neuropathol Exp Neurol
, vol.24
, pp. 341-351
-
-
Ledeen, R.1
Salsman, K.2
Gonatas, J.3
-
17
-
-
0014517298
-
Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis
-
Loeb H, Tondeur M, Toppet M et al (1969) Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis. Acta Paediatr Scand 58:220-228
-
(1969)
Acta Paediatr Scand
, vol.58
, pp. 220-228
-
-
Loeb, H.1
Tondeur, M.2
Toppet, M.3
-
18
-
-
0027496536
-
The mucopolysaccharidoses: Characterization by cranial MR imaging
-
Lee C, Dineen TE, Brack M et al (1993) The mucopolysaccharidoses: Characterization by cranial MR imaging. AJNR Am J Neuroradiol 14:1285-1292 (Pubitemid 23334619)
-
(1993)
American Journal of Neuroradiology
, vol.14
, Issue.6
, pp. 1285-1292
-
-
Lee, C.1
Dineen, T.E.2
Brack, M.3
Kirsch, J.E.4
Runge, V.M.5
-
19
-
-
0030899669
-
Murine mucopolysaccharidosis type I: Targeted disruption of the murine α-L-iduronidase gene
-
DOI 10.1093/hmg/6.4.503
-
Clarke LA, Russell CS, Pownall S et al (1997) Murine mucopolysaccharidosis type I: Targeted disruption of the murine alpha- L-iduronidase gene. Hum Mol Genet 6:503-511 (Pubitemid 27142098)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.4
, pp. 503-511
-
-
Clarke, L.A.1
Russell, C.S.2
Pownall, S.3
Warrington, C.L.4
Borowski, A.5
Dimmick, J.E.6
Toone, J.7
Jirik, F.R.8
-
20
-
-
0018293121
-
Alpha L iduronidase deficiency in a cat: A model of mucopolysaccharidosis I
-
Haskins ME, Jezyk PF, Desnick RJ et al (1979) Alpha-L-iduronidase deficiency in a cat: A model of mucopolysaccharidosis I. Pediatr Res 13:1294-1297 (Pubitemid 9256300)
-
(1979)
Pediatric Research
, vol.13
, Issue.11
, pp. 1294-1297
-
-
Haskins, M.E.1
Jezyk, P.F.2
Desnick, R.J.3
-
22
-
-
0031745428
-
Murine MPS I: Insights into the pathogenesis of Hurler syndrome
-
Russell C, Hendson G, Jevon G et al (1998) Murine MPS I: Insights into the pathogenesis of Hurler syndrome. Clin Genet 53:349-361 (Pubitemid 28252097)
-
(1998)
Clinical Genetics
, vol.53
, Issue.5
, pp. 349-361
-
-
Russell, C.1
Hendson, G.2
Jevon, G.3
Matlock, T.4
Yu, J.5
Aklujkar, M.6
Ng, K.-Y.7
Clarke, L.A.8
-
23
-
-
33746833590
-
Gene therapy of the brain in the dog model of Hurler's syndrome
-
DOI 10.1002/ana.20870
-
Ciron C, Desmaris N, Colle MA et al (2006) Gene therapy of the brain in the dog model of Hurler's syndrome. Ann Neurol 60:204-213 (Pubitemid 44182395)
-
(2006)
Annals of Neurology
, vol.60
, Issue.2
, pp. 204-213
-
-
Ciron, C.1
Desmaris, N.2
Colle, M.-A.3
Raoul, S.4
Joussemet, B.5
Verot, L.6
Ausseil, J.7
Froissart, R.8
Roux, F.9
Cherel, Y.10
Ferry, N.11
Lajat, Y.12
Schwartz, B.13
Vanier, M.-T.14
Maire, I.15
Tardieu, M.16
Mouiller, P.17
Heard, J.-M.18
-
24
-
-
0022217851
-
Neurochemical characterization of canine α-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I)
-
DOI 10.1111/j.1471-4159.1985.tb05544.x
-
Constantopoulos G, Shull RM, Hastings N et al (1985) Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I). J Neurochem 45:1213-1217 (Pubitemid 16252062)
-
(1985)
Journal of Neurochemistry
, vol.45
, Issue.4
, pp. 1213-1217
-
-
Constantopoulos, G.1
Shull, R.M.2
Hastings, N.3
Neufeld, E.F.4
-
25
-
-
3042836949
-
Prevention of neuropathology in the mouse model of Hurler syndrome
-
DOI 10.1002/ana.20150
-
Desmaris N, Verot L, Puech JP et al (2004) Prevention of neuropathology in the mouse model of Hurler syndrome. Ann Neurol 56:68-76 (Pubitemid 38857361)
-
(2004)
Annals of Neurology
, vol.56
, Issue.1
, pp. 68-76
-
-
Desmaris, N.1
Verot, L.2
Puech, J.P.3
Caillaud, C.4
Vanier, M.T.5
Heard, J.M.6
-
26
-
-
34249305165
-
Bone marrow transplantation for feline mucopolysaccharidosis I
-
DOI 10.1016/j.ymgme.2007.03.001, PII S1096719207000959
-
Ellinwood NM, Colle MA, Weil MA et al (2007) Bone marrow transplantation for feline mucopolysaccharidosis I. Mol Genet Metab 91:239-250 (Pubitemid 46819119)
-
(2007)
Molecular Genetics and Metabolism
, vol.91
, Issue.3
, pp. 239-250
-
-
Ellinwood, N.M.1
Colle, M.-A.2
Weil, M.A.3
Casal, M.L.4
Vite, C.H.5
Wiemelt, S.6
Hasson, C.W.7
O'Malley, T.M.8
He, X.9
Prociuk, U.10
Verot, L.11
Melniczek, J.R.12
Lannon, A.13
Aguirre, G.D.14
Knox, V.W.15
Evans, S.M.16
Vanier, M.T.17
Schuchman, E.H.18
Walkley, S.U.19
Haskins, M.E.20
more..
-
27
-
-
34848831191
-
Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy
-
DOI 10.1016/j.brainresbull.2007.07.018, PII S0361923007002225
-
Garcia-Rivera MF, Colvin-Wanshura LE, Nelson MS et al (2007) Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy. Brain Res Bull 74:429-438 (Pubitemid 47498753)
-
(2007)
Brain Research Bulletin
, vol.74
, Issue.6
, pp. 429-438
-
-
Garcia-Rivera, M.F.1
Colvin-Wanshura, L.E.2
Nelson, M.S.3
Nan, Z.4
Khan, S.A.5
Rogers, T.B.6
Maitra, I.7
Low, W.C.8
Gupta, P.9
-
28
-
-
0035718871
-
Enzyme replacement therapy in feline mucopolysaccharidosis I
-
DOI 10.1006/mgme.2000.3140
-
Kakkis ED, Schuchman E, He X et al (2001) Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol Genet Metab 72:199-208 (Pubitemid 34171436)
-
(2001)
Molecular Genetics and Metabolism
, vol.72
, Issue.3
, pp. 199-208
-
-
Kakkis, E.D.1
Schuchman, E.2
He, X.3
Wan, Q.4
Kania, S.5
Wiemelt, S.6
Hasson, C.W.7
O'Malley, T.8
Weil, M.A.9
Aguirre, G.A.10
Brown, D.E.11
Haskins, M.E.12
-
29
-
-
9744229206
-
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
-
DOI 10.1002/cne.20355
-
McGlynn R, Dobrenis K, Walkley SU (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 480:415-426 (Pubitemid 39587233)
-
(2004)
Journal of Comparative Neurology
, vol.480
, Issue.4
, pp. 415-426
-
-
McGlynn, R.1
Dobrenis, K.2
Walkley, S.U.3
-
30
-
-
0021361624
-
Morphologic and biochemical studies of canine mucopolysaccharidosis I
-
Shull RM, Helman RG, Spellacy E et al (1984) Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 114:487-495 (Pubitemid 14151585)
-
(1984)
American Journal of Pathology
, vol.114
, Issue.3
, pp. 487-495
-
-
Shull, R.M.1
Helman, R.G.2
Spellacy, E.3
-
31
-
-
0012823114
-
Gangliosides
-
Lajtha A (ed), Plenum Publishing, New York
-
Ledeen R (1983) Gangliosides. In: Lajtha A (ed) Handbook of neurochemistry, vol 3. Plenum Publishing, New York, pp 41-90
-
(1983)
Handbook of Neurochemistry
, vol.3
, pp. 41-90
-
-
Ledeen, R.1
-
32
-
-
0021231873
-
Cellular distribution of gangliosides in the developing mouse cerebellum: Analysis using the staggerer mutant
-
DOI 10.1111/j.1471-4159.1984.tb12856.x
-
Seyfried TN, Bernard DJ, Yu RK (1984) Cellular distribution of gangliosides in the developing mouse cerebellum: Analysis using the staggerer mutant. J Neurochem 43:1152-1162 (Pubitemid 14011273)
-
(1984)
Journal of Neurochemistry
, vol.43
, Issue.4
, pp. 1152-1162
-
-
Seyfried, T.N.1
Bernard, D.J.2
Yu, R.K.3
-
33
-
-
0020502220
-
Cellular localization of gangliosides in the developing mouse cerebellum: Analysis using the weaver mutant
-
Seyfried TN, Miyazawa N, Yu RK (1983) Cellular localization of gangliosides in the developing mouse cerebellum: Analysis using the weaver mutant. J Neurochem 41:491-505 (Pubitemid 13030573)
-
(1983)
Journal of Neurochemistry
, vol.41
, Issue.2
, pp. 491-505
-
-
Seyfried, T.N.1
Miyazawa, N.2
Yu, R.K.3
-
34
-
-
0025233768
-
Identification of disialosyl paragloboside and O-acetyldisialosyl paragloboside in cerebellum and embryonic cerebrum
-
Chou DK, Flores S, Jungalwala FB (1990) Identification of disialosyl paragloboside and O-acetyldisialosyl paragloboside in cerebellum and embryonic cerebrum. J Neurochem 54: 1598-1607
-
(1990)
J Neurochem
, vol.54
, pp. 1598-1607
-
-
Chou, D.K.1
Flores, S.2
Jungalwala, F.B.3
-
35
-
-
0028670777
-
Ganglioside GD1 alpha in cerebellar Purkinje cells. Its specific absence in mouse mutants with Purkinje cell abnormality and altered immunoreactivity in response to conjunctive stimuli causing long-term desensitization
-
Furuya S, Irie F, Hashikawa T et al (1994) Ganglioside GD1 alpha in cerebellar Purkinje cells. Its specific absence in mouse mutants with Purkinje cell abnormality and altered immunoreactivity in response to conjunctive stimuli causing long-term desensitization. J Biol Chem 269:32418-32425
-
(1994)
J Biol Chem
, vol.269
, pp. 32418-32425
-
-
Furuya, S.1
Irie, F.2
Hashikawa, T.3
-
36
-
-
0021317783
-
Cellular localization of gangliosides in the mouse cerebellum: Analysis using neurological mutants
-
Seyfried TN, Yu RK (1984) Cellular localization of gangliosides in the mouse cerebellum: Analysis using neurological mutants. Adv Exp Med Biol 174:169-181
-
(1984)
Adv Exp Med Biol
, vol.174
, pp. 169-181
-
-
Seyfried, T.N.1
Yu, R.K.2
-
37
-
-
0025306744
-
Cerebellar ganglioside abnormalities in pcd mutant mice
-
DOI 10.1002/jnr.490260113
-
Seyfried TN, Yu RK (1990) Cerebellar ganglioside abnormalities in pcd mutant mice. J Neurosci Res 26:105-111 (Pubitemid 20175059)
-
(1990)
Journal of Neuroscience Research
, vol.26
, Issue.1
, pp. 105-111
-
-
Seyfried, T.N.1
Yu, R.K.2
-
38
-
-
0024341819
-
Human brain gangliosides: Developmental changes from early fetal stage to advanced age
-
DOI 10.1016/0005-2760(89)90175-6
-
Svennerholm L, Bostrom K, Fredman P et al (1989) Human brain gangliosides: Developmental changes from early fetal stage to advanced age. Biochim Biophys Acta 1005:109-117 (Pubitemid 19224675)
-
(1989)
Biochimica et Biophysica Acta - Lipids and Lipid Metabolism
, vol.1005
, Issue.2
, pp. 109-117
-
-
Svennerholm, L.1
Bostrom, K.2
Fredman, P.3
Mansson, J.-E.4
Rosengren, B.5
Rynmark, B.-M.6
-
39
-
-
70849091622
-
Characterization of GD3 ganglioside as a novel biomarker of mouse neural stem cells
-
Nakatani Y, Yanagisawa M, Suzuki Y et al (2010) Characterization of GD3 ganglioside as a novel biomarker of mouse neural stem cells. Glycobiology 20:78-86
-
(2010)
Glycobiology
, vol.20
, pp. 78-86
-
-
Nakatani, Y.1
Yanagisawa, M.2
Suzuki, Y.3
-
40
-
-
0020028769
-
Differential cellular enrichment of gangliosides in the mouse cerebellum: Analysis using neurological mutants
-
DOI 10.1111/j.1471-4159.1982.tb08662.x
-
Seyfried TN, Yu RK, Miyazawa N (1982) Differential cellular enrichment of gangliosides in the mouse cerebellum: Analysis using neurological mutants. J Neurochem 38:551-559 (Pubitemid 12138716)
-
(1982)
Journal of Neurochemistry
, vol.38
, Issue.2
, pp. 551-559
-
-
Seyfried, T.N.1
Ku, R.K.2
Miyazawa, N.3
-
41
-
-
0018377704
-
Sialosylgalactosyl ceramide as a specific marker for human myelin and oligodendroglial perikarya: Gangliosides of human myelin, oligodendroglia and neurons
-
Yu RK, Iqbal K (1979) Sialosylgalactosyl ceramide as a specific marker for human myelin and oligodendroglial perikarya: Gangliosides of human myelin, oligodendroglia and neurons. J Neurochem 32:293-300 (Pubitemid 9131934)
-
(1979)
Journal of Neurochemistry
, vol.32
, Issue.2
, pp. 293-300
-
-
Yu, R.K.1
Iqbal, K.2
-
42
-
-
0022271047
-
Ganglioside G(D3): Structure, cellular distribution, and possible function
-
Seyfried TN, Yu RK (1985) Ganglioside GD3: Structure, cellular distribution, and possible function. Mol Cell Biochem 68:3-10 (Pubitemid 15241669)
-
(1985)
Molecular and Cellular Biochemistry
, vol.68
, Issue.1
, pp. 3-10
-
-
Seyfried, T.N.1
Yu, R.K.2
-
43
-
-
0016821690
-
Gangliosides in developing mouse brain myelin
-
Yu RK, Yen SI (1975) Gangliosides in developing mouse brain myelin. J Neurochem 25:229-232
-
(1975)
J Neurochem
, vol.25
, pp. 229-232
-
-
Yu, R.K.1
Yen, S.I.2
-
44
-
-
0019464628
-
Immunohistochemical localization of galactosyl and sulfogalactosyl ceramide in the brain of the 30-day-old mouse
-
DOI 10.1016/0006-8993(81)90706-X
-
Zalc B, Monge M, Dupouey P et al (1981) Immunohistochemical localization of galactosyl and sulfogalactosyl ceramide in the brain of the 30-day-old mouse. Brain Res 211:341-354 (Pubitemid 11150827)
-
(1981)
Brain Research
, vol.211
, Issue.2
, pp. 341-354
-
-
Zalc, B.1
Monge, M.2
Dupouey, P.3
-
45
-
-
0035158236
-
Parameters related to lipid metabolism as markers of myelination in mouse brain
-
DOI 10.1046/j.1471-4159.2001.00015.x
-
Muse ED, Jurevics H, Toews AD et al (2001) Parameters related to lipid metabolism as markers of myelination in mouse brain. J Neurochem 76:77-86 (Pubitemid 32044370)
-
(2001)
Journal of Neurochemistry
, vol.76
, Issue.1
, pp. 77-86
-
-
Muse, E.D.1
Jurevics, H.2
Toews, A.D.3
Matsushima, G.K.4
Morell, P.5
-
46
-
-
0013973733
-
Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism
-
Borri PF, Hooghwinkel GJ, Edgar GW (1966) Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism. J Neurochem 13:1249-1256
-
(1966)
J Neurochem
, vol.13
, pp. 1249-1256
-
-
Borri, P.F.1
Hooghwinkel, G.J.2
Edgar, G.W.3
-
47
-
-
0020316295
-
Acidic glycosaminoglycans and gangliosides in the brains from four patients with genetic mucopolysaccharidosis
-
Ikeno T, Minami R, Tsugawa S et al (1982) Acidic glycosaminoglycans and gangliosides in the brains from four patients with genetic mucopolysaccharidosis. Tohoku J Exp Med 137:253-260 (Pubitemid 12061003)
-
(1982)
Tohoku Journal of Experimental Medicine
, vol.137
, Issue.3
, pp. 253-260
-
-
Ikeno, T.1
Minami, R.2
Tsugawa, S.3
Nakao, T.4
-
48
-
-
40949120522
-
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice
-
Baek RC, Kasperzyk JL, Platt FM et al (2008) N- butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. Neurochem Int 52:1125-1133
-
(2008)
Neurochem Int
, vol.52
, pp. 1125-1133
-
-
Baek, R.C.1
Kasperzyk, J.L.2
Platt, F.M.3
-
49
-
-
2042477809
-
Inheritance of lysosomal acid β-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice
-
DOI 10.1023/B:BIGI.0000034429.55418.71
-
Hauser EC, Kasperzyk JL, d'Azzo A et al (2004) Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice. Biochem Genet 42: 241-257 (Pubitemid 39012266)
-
(2004)
Biochemical Genetics
, vol.42
, Issue.7-8
, pp. 241-257
-
-
Hauser, E.C.1
Kasperzyk, J.L.2
D'Azzo, A.3
Seyfried, T.N.4
-
50
-
-
2042454988
-
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis
-
Kasperzyk JL, El-Abbadi MM, Hauser EC et al (2004) N- butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. J Neurochem 89:645-653 (Pubitemid 38534150)
-
(2004)
Journal of Neurochemistry
, vol.89
, Issue.3
, pp. 645-653
-
-
Kasperzyk, J.L.1
El-Abbadi, M.M.2
Hauser, E.C.3
D'Azzo, A.4
Platt, F.M.5
Seyfried, T.N.6
-
51
-
-
0018104557
-
Cerebral, cerebellar, and brain stem gangliosides in mice susceptible to audiogenic seizures
-
Seyfried TN, Glaser GH, Yu RK (1978) Cerebral, cerebellar, and brain stem gangliosides in mice susceptible to audiogenic seizures. J Neurochem 31:21-27 (Pubitemid 8390973)
-
(1978)
Journal of Neurochemistry
, vol.31
, Issue.1
, pp. 21-27
-
-
Seyfried, T.N.1
Glaser, G.H.2
Yu, R.K.3
-
52
-
-
0021072977
-
Analysis of brain lipids by high performance thinlayer chromatography and densitometry
-
Macala LJ, Yu RK, Ando S (1983) Analysis of brain lipids by high performance thin-layer chromatography and densitometry. J Lipid Res 24:1243-1250 (Pubitemid 14236574)
-
(1983)
Journal of Lipid Research
, vol.24
, Issue.9
, pp. 1243-1250
-
-
Macal, L.J.1
Yu, R.K.2
Ando, S.3
-
53
-
-
70449158340
-
A simple method for the isolation and purification of total lipides from animal tissues
-
Folch J, Lees M, Sloane Stanley GH (1957) A simple method for the isolation and purification of total lipides from animal tissues. J Biol Chem 226:497-509
-
(1957)
J Biol Chem
, vol.226
, pp. 497-509
-
-
Folch, J.1
Lees, M.2
Sloane Stanley, G.H.3
-
54
-
-
49749155713
-
Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method
-
Svennerholm L (1957) Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method. Biochim Biophys Acta 24:604-611
-
(1957)
Biochim Biophys Acta
, vol.24
, pp. 604-611
-
-
Svennerholm, L.1
-
55
-
-
0018080005
-
High performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species
-
Ando S, Chang NC, Yu RK (1978) High-performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species. Anal Biochem 89: 437-450 (Pubitemid 9067266)
-
(1978)
Analytical Biochemistry
, vol.89
, Issue.2
, pp. 437-450
-
-
Ando, S.1
Chang, N.C.2
Yu, R.K.3
-
56
-
-
78651168061
-
The mucopolysaccharisoses. A clinical and biochemical survey
-
Melchior JC, Clausen J, Dyggve HV (1965) The mucopolysaccharisoses. A clinical and biochemical survey. Clin Pediatr (Phila) 4:468-480
-
(1965)
Clin Pediatr (Phila
, vol.4
, pp. 468-480
-
-
Melchior, J.C.1
Clausen, J.2
Dyggve, H.V.3
-
57
-
-
77049248596
-
Chemical nature of the storage substance in gargoylism, Hurler-Pfaundler's disease
-
Uzman LL (1955) Chemical nature of the storage substance in gargoylism, Hurler-Pfaundler's disease. AMA Arch Pathol 60: 308-318
-
(1955)
AMA Arch Pathol
, vol.60
, pp. 308-318
-
-
Uzman, L.L.1
-
58
-
-
0014227963
-
Analysis of glycolipids in the Hurler syndrome
-
Wherrett JR (1968) Analysis of glycolipids in the Hurler syndrome. Pathol Eur 3:431-439
-
(1968)
Pathol Eur
, vol.3
, pp. 431-439
-
-
Wherrett, J.R.1
-
59
-
-
0018898897
-
Mucopolysaccharidosis types IH, IS, II, and IIIA: Glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues
-
Constantopoulos G, Iqbal K, Dekaban AS (1980) Mucopolysaccharidosis types IH, IS, II, and IIIA: Glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues. J Neurochem 34:1399-1411 (Pubitemid 10114377)
-
(1980)
Journal of Neurochemistry
, vol.34
, Issue.6
, pp. 1399-1411
-
-
Constantopoulos, G.1
Iqbal, K.2
Dekaban, A.S.3
-
61
-
-
0022555722
-
3 ganglioside to astrocytes in murine cerebellar mutants
-
DOI 10.1016/0006-8993(86)90420-8
-
Levine SM, Seyfried TN, Yu RK et al (1986) Immunocytochemical localization of GD3 ganglioside to astrocytes in murine cerebellar mutants. Brain Res 374:260-269 (Pubitemid 16077977)
-
(1986)
Brain Research
, vol.374
, Issue.2
, pp. 260-269
-
-
Levine, S.M.1
Seyfried, T.N.2
Yu, R.K.3
Goldman, J.E.4
-
62
-
-
34548261716
-
Glycolipid and ganglioside metabolism imbalances in Huntington's disease
-
DOI 10.1016/j.nbd.2007.05.003, PII S0969996107001076
-
Desplats PA, Denny CA, Kass KE et al (2007) Glycolipid and ganglioside metabolism imbalances in Huntington's disease. Neurobiol Dis 27:265-277 (Pubitemid 47333188)
-
(2007)
Neurobiology of Disease
, vol.27
, Issue.3
, pp. 265-277
-
-
Desplats, P.A.1
Denny, C.A.2
Kass, K.E.3
Gilmartin, T.4
Head, S.R.5
Sutcliffe, J.G.6
Seyfried, T.N.7
Thomas, E.A.8
-
63
-
-
0025769357
-
Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
-
Walkley SU, Baker HJ, Rattazzi MC et al (1991) Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement. J Neurol Sci 104:1-8
-
(1991)
J Neurol Sci
, vol.104
, pp. 1-8
-
-
Walkley, S.U.1
Baker, H.J.2
Rattazzi, M.C.3
-
64
-
-
78651326446
-
Cerebellar lipid differences between R6/1 transgenic mice and humans with Huntington's Disease
-
Denny CA, Desplats PA, Thomas EA et al. (2010) Cerebellar lipid differences between R6/1 transgenic mice and humans with Huntington's Disease. J Neurochem
-
(2010)
J Neurochem
-
-
Denny, C.A.1
Desplats, P.A.2
Thomas, E.A.3
-
65
-
-
23444444518
-
Lipid signaling in neural plasticity, brain repair, and neuroprotection
-
Bazan NG (2005) Lipid signaling in neural plasticity, brain repair, and neuroprotection. Mol Neurobiol 32:89-103 (Pubitemid 41113211)
-
(2005)
Molecular Neurobiology
, vol.32
, Issue.1
, pp. 89-103
-
-
Bazan, N.G.1
-
66
-
-
0035430622
-
Essential role for cholesterol in synaptic plasticity and neuronal degeneration
-
Koudinov AR, Koudinova NV (2001) Essential role for cholesterol in synaptic plasticity and neuronal degeneration. FASEB J 15:1858-1860
-
(2001)
FASEB J
, vol.15
, pp. 1858-1860
-
-
Koudinov, A.R.1
Koudinova, N.V.2
-
67
-
-
0036412405
-
In utero injection of α-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: Infection of multiple tissues and neonatal gene expression
-
DOI 10.1089/104303402760372918
-
Meertens L, Zhao Y, Rosic-Kablar S et al (2002) In utero injection of alpha-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: Infection of multiple tissues and neonatal gene expression. Hum Gene Ther 13:1809-1820 (Pubitemid 35292678)
-
(2002)
Human Gene Therapy
, vol.13
, Issue.15
, pp. 1809-1820
-
-
Meertens, L.1
Zhao, Y.2
Rosic-Kablar, S.3
Li, L.4
Chan, K.5
Dobson, H.6
Gartley, C.7
Lutzko, C.8
Hopwood, J.9
Kohn, D.10
Kruth, S.11
Hough, M.R.12
Dube, I.D.13
-
68
-
-
44449129111
-
Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation
-
DOI 10.1038/sj.bmt.1705988, PII 1705988
-
Messina C, Rampazzo A, Cesaro S et al (2008) Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation. Bone Marrow Transplant 41:905-906 (Pubitemid 351761693)
-
(2008)
Bone Marrow Transplantation
, vol.41
, Issue.10
, pp. 905-906
-
-
Messina, C.1
Rampazzo, A.2
Cesaro, S.3
Monciotti, C.4
Gasparotto, N.5
Tomanin, R.6
Scarpa, M.7
-
69
-
-
3042857400
-
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human α-L-iduronidase gene
-
DOI 10.1016/j.ymthe.2004.03.011, PII S1525001604001078
-
Hartung SD, Frandsen JL, Pan D et al (2004) Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther 9: 866-875 (Pubitemid 38878132)
-
(2004)
Molecular Therapy
, vol.9
, Issue.6
, pp. 866-875
-
-
Hartung, S.D.1
Frandsen, J.L.2
Pan, D.3
Koniar, B.L.4
Graupman, P.5
Gunther, R.6
Low, W.C.7
Whitley, C.B.8
McIvor, R.S.9
-
70
-
-
78449311112
-
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects Mucopolysaccharidosis type I phenotype in the mouse model
-
Visigalli I, Delai S, Politi LS et al. (2010) Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects Mucopolysaccharidosis type I phenotype in the mouse model. Blood
-
(2010)
Blood
-
-
Visigalli, I.1
Delai, S.2
Politi, L.S.3
-
71
-
-
73949104651
-
Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome
-
Wang D, Zhang W, Kalfa TA et al (2009) Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome. Proc Natl Acad Sci U S A 106:19958-19963
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 19958-19963
-
-
Wang, D.1
Zhang, W.2
Kalfa, T.A.3
|