-
1
-
-
1642544547
-
Studies on sulfatides by quadrupole ion-trap mass spectrometry with electrospray ionization: Structural characterization and the fragmentation processes that include an unusual internal galactose residue loss and the classical charge-remote fragmentation
-
Hsu F.F., Turk J., Studies on sulfatides by quadrupole ion-trap mass spectrometry with electrospray ionization: structural characterization and the fragmentation processes that include an unusual internal galactose residue loss and the classical charge-remote fragmentation, Journal of the American Society for Mass Spectrometry 15 (2004) 536–546.
-
(2004)
Journal of the American Society for Mass Spectrometry
, vol.15
, pp. 536-546
-
-
Hsu, F.F.1
Turk, J.2
-
2
-
-
34248536519
-
Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:Phosphocholine cytidylyltransfer-ase alpha
-
Kacher Y., Golan A., Pewzner-Jung Y., Futerman A.H., Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:phosphocholine cytidylyltransfer-ase alpha, Blood cells, molecules & diseases 39 (2007) 124–129.
-
(2007)
Blood Cells, Molecules &Amp; Diseases
, vol.39
, pp. 124-129
-
-
Kacher, Y.1
Golan, A.2
Pewzner-Jung, Y.3
Futerman, A.H.4
-
3
-
-
33845698287
-
Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
-
Kaneski C.R., Moore D.F., Ries M., Zirzow G.C., Schiffmann R., Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease, Neurology 67 (2006) 2045–2047.
-
(2006)
Neurology
, vol.67
, pp. 2045-2047
-
-
Kaneski, C.R.1
Moore, D.F.2
Ries, M.3
Zirzow, G.C.4
Schiffmann, R.5
-
4
-
-
0033987337
-
Functional significance of globotriaosyl ceramide in interferon-alpha(2)/type 1 interferon receptor-mediated antiviral activity
-
Khine A.A., Lingwood C.A., Functional significance of globotriaosyl ceramide in interferon-alpha(2)/type 1 interferon receptor-mediated antiviral activity, Journal of Cellular Physiology 182 (2000) 97–108.
-
(2000)
Journal of Cellular Physiology
, vol.182
, pp. 97-108
-
-
Khine, A.A.1
Lingwood, C.A.2
-
5
-
-
20544450120
-
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrome-try
-
Kitagawa T., Ishige N., Suzuki K., Owada M., Ohashi T., Kobayashi M., Eto Y., Tanaka A., Mills K., Winchester B., Keutzer J., Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrome-try, Molecular genetics and metabolism 85 (2005) 196–202.
-
(2005)
Molecular Genetics and Metabolism
, vol.85
, pp. 196-202
-
-
Kitagawa, T.1
Ishige, N.2
Suzuki, K.3
Owada, M.4
Ohashi, T.5
Kobayashi, M.6
Eto, Y.7
Tanaka, A.8
Mills, K.9
Winchester, B.10
Keutzer, J.11
-
6
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica V., Stone D.L., Park J.K., Callahan M., Frisch A., Cohen I.J., Tayebi N., Sidransky E., Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease, American journal of human genetics 66 (2000) 1777–1786.
-
(2000)
American Journal of Human Genetics
, vol.66
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
Callahan, M.4
Frisch, A.5
Cohen, I.J.6
Tayebi, N.7
Sidransky, E.8
-
7
-
-
0035910463
-
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
-
Lin L., Sohar I., Lackland H., Lobel P., The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH, The Journal of biological chemistry 276 (2001) 2249–2255.
-
(2001)
The Journal of Biological Chemistry
, vol.276
, pp. 2249-2255
-
-
Lin, L.1
Sohar, I.2
Lackland, H.3
Lobel, P.4
-
8
-
-
0029916780
-
Role of verotoxin receptors in pathogenesis
-
Lingwood C.A., Role of verotoxin receptors in pathogenesis, Trends Microbiol 4 (1996) 147–153.
-
(1996)
Trends Microbiol
, vol.4
, pp. 147-153
-
-
Lingwood, C.A.1
-
9
-
-
0029788513
-
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lympho-blasts by recombinant palmitoyl-protein thioesterase
-
Lu J.Y., Verkruyse L.A., Hofmann S.L., Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lympho-blasts by recombinant palmitoyl-protein thioesterase, Proceedings of the National Academy of Sciences of the United States of America 93 (1996) 10046–10050.
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, pp. 10046-10050
-
-
Lu, J.Y.1
Verkruyse, L.A.2
Hofmann, S.L.3
-
10
-
-
27644447923
-
Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
-
Lugowska A., Amaral O., Berger J., Berna L., Bosshard N.U., Chabas A., Fensom A., Gieselmann V., Gorovenko N.G., Lissens W., Mansson J.E., Marcao A., Michelakakis H., Bernheimer H., Ol’khovych N.V., Regis S., Sinke R., Tylki-Szymanska A., Czartoryska B., Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries, Molecular genetics and metabolism 86 (2005) 353–359.
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, pp. 353-359
-
-
Lugowska, A.1
Amaral, O.2
Berger, J.3
Berna, L.4
Bosshard, N.U.5
Chabas, A.6
Fensom, A.7
Gieselmann, V.8
Gorovenko, N.G.9
Lissens, W.10
Mansson, J.E.11
Marcao, A.12
Michelakakis, H.13
Bernheimer, H.14
Ol’Khovych, N.V.15
Regis, S.16
Sinke, R.17
Tylki-Szymanska, A.18
Czartoryska, B.19
-
11
-
-
0037372794
-
Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots
-
Lukacs Z., Santavuori P., Keil A., Steinfeld R., Kohlschutter A., Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots, Clinical chemistry 49 (2003) 509–511.
-
(2003)
Clinical Chemistry
, vol.49
, pp. 509-511
-
-
Lukacs, Z.1
Santavuori, P.2
Keil, A.3
Steinfeld, R.4
Kohlschutter, A.5
-
12
-
-
0028358087
-
CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: Implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis
-
Maloney M.D., Lingwood C.A., CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis, Journal of Experimental Medicine 180 (1994) 191–201.
-
(1994)
Journal of Experimental Medicine
, vol.180
, pp. 191-201
-
-
Maloney, M.D.1
Lingwood, C.A.2
-
13
-
-
0027366926
-
Apoptosis induced in Burkitt’s lymphoma cells via Gb3/CD77, a glycolipid antigen
-
Mangeney M., Lingwood C.A., Taga S., Caillou B., Tursz T., Wiels J., Apoptosis induced in Burkitt’s lymphoma cells via Gb3/CD77, a glycolipid antigen, Cancer Research 53 (1993) 5314–5319.
-
(1993)
Cancer Research
, vol.53
, pp. 5314-5319
-
-
Mangeney, M.1
Lingwood, C.A.2
Taga, S.3
Caillou, B.4
Tursz, T.5
Wiels, J.6
-
14
-
-
0037181493
-
Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectro-metry
-
Mills K., Johnson A., Winchester B., Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectro-metry, FEBS letters 515 (2002) 171–176.
-
(2002)
FEBS Letters
, vol.515
, pp. 171-176
-
-
Mills, K.1
Johnson, A.2
Winchester, B.3
-
15
-
-
0034935252
-
Selective arterial distribution of cerebral hyper-perfusion in Fabry disease
-
Moore D.F., Herscovitch P., Schiffmann R., Selective arterial distribution of cerebral hyper-perfusion in Fabry disease, Journal of Neuroimaging 11 (2001) 303–307.
-
(2001)
Journal of Neuroimaging
, vol.11
, pp. 303-307
-
-
Moore, D.F.1
Herscovitch, P.2
Schiffmann, R.3
-
16
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
-
Moore D.F., Scott L.T., Gladwin M.T., Altarescu G., Kaneski C., Suzuki K., Pease-Fye M., Ferri R., Brady R.O., Herscovitch P., Schiffmann R., Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy, Circulation 104 (2001) 1506–1512.
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
Altarescu, G.4
Kaneski, C.5
Suzuki, K.6
Pease-Fye, M.7
Ferri, R.8
Brady, R.O.9
Herscovitch, P.10
Schiffmann, R.11
-
17
-
-
0024259857
-
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
-
Myerowitz R., Costigan F.C., The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase, The Journal of biological chemistry 263 (1988) 18587–18589.
-
(1988)
The Journal of Biological Chemistry
, vol.263
, pp. 18587-18589
-
-
Myerowitz, R.1
Costigan, F.C.2
-
18
-
-
0037093476
-
Molecular patho-physiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
-
Myerowitz R., Lawson D., Mizukami H., Mi Y., Tifft C.J., Proia R.L., Molecular patho-physiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling, Human molecular genetics 11 (2002) 1343–1350.
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 1343-1350
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
Mi, Y.4
Tifft, C.J.5
Proia, R.L.6
-
19
-
-
0016172389
-
Human erythrocyte P and Pk blood group antigens: Identification as glycosphingolipids
-
Naiki M., Marcus D.M., Human erythrocyte P and Pk blood group antigens: identification as glycosphingolipids, Biochemical and Biophysical Research Communications 60 (1974) 1105–1111.
-
(1974)
Biochemical and Biophysical Research Communications
, vol.60
, pp. 1105-1111
-
-
Naiki, M.1
Marcus, D.M.2
-
20
-
-
2042502380
-
Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry
-
Nelson B.C., Roddy T., Araghi S., Wilkens D., Thomas J.J., Zhang K., Sung C.C., Richards S.M., Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry, Journal of chromatography 805 (2004) 127–134.
-
(2004)
Journal of Chromatography
, vol.805
, pp. 127-134
-
-
Nelson, B.C.1
Roddy, T.2
Araghi, S.3
Wilkens, D.4
Thomas, J.J.5
Zhang, K.6
Sung, C.C.7
Richards, S.M.8
-
21
-
-
0026341891
-
Fast-atom-bombardment chemistry of sulfatide (3-sulfogalactosylcer-amide)
-
Ohashi Y., Nagai Y., Fast-atom-bombardment chemistry of sulfatide (3-sulfogalactosylcer-amide), Carbohydrate research 221 (1991) 235–243.
-
(1991)
Carbohydrate Research
, vol.221
, pp. 235-243
-
-
Ohashi, Y.1
Nagai, Y.2
-
22
-
-
0033033809
-
Further evidenceofgenetic homogeneityinSjogren-Larsson syndrome
-
Pigg M., Annton-Lamprecht I., Braun-Quentin C., Gustavson K.H., Wadelius C., Further evidenceofgenetic homogeneityinSjogren-Larsson syndrome, Actadermato-venereologica 79 (1999) 41–43.
-
(1999)
Actadermato-Venereologica
, vol.79
, pp. 41-43
-
-
Pigg, M.1
Annton-Lamprecht, I.2
Braun-Quentin, C.3
Gustavson, K.H.4
Wadelius, C.5
-
23
-
-
0032743108
-
Role of glycosphingolipids in HIV-1 entry: Requirement of globotriosylceramide (Gb3) in CD4/CXCR4-dependent fusion
-
Puri A., Hug P., Jernigan K., Rose P., Blumenthal R., Role of glycosphingolipids in HIV-1 entry: requirement of globotriosylceramide (Gb3) in CD4/CXCR4-dependent fusion, Bioscience reports 19 (1999) 317–325.
-
(1999)
Bioscience Reports
, vol.19
, pp. 317-325
-
-
Puri, A.1
Hug, P.2
Jernigan, K.3
Rose, P.4
Blumenthal, R.5
-
24
-
-
34548426172
-
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscentof human metachromatic leukodystrophy
-
Ramakrishnan H., Hedayati K.K., Lullmann-Rauch R., Wessig C., Fewou S.N., Maier H., Goebel H.H., Gieselmann V., Eckhardt M., Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscentof human metachromatic leukodystrophy, Journalof Neuroscience 27 (2007) 9482–9490.
-
(2007)
Journalof Neuroscience
, vol.27
, pp. 9482-9490
-
-
Ramakrishnan, H.1
Hedayati, K.K.2
Lullmann-Rauch, R.3
Wessig, C.4
Fewou, S.N.5
Maier, H.6
Goebel, H.H.7
Gieselmann, V.8
Eckhardt, M.9
-
25
-
-
27644456157
-
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
-
Ramsay S.L., Meikle P.J., Hopwood J.J., Clements P.R., Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides, Analytical biochemistry 345 (2005) 30–46.
-
(2005)
Analytical Biochemistry
, vol.345
, pp. 30-46
-
-
Ramsay, S.L.1
Meikle, P.J.2
Hopwood, J.J.3
Clements, P.R.4
-
26
-
-
33748684424
-
Late-onset metachromatic leukodystrophy: Genotype strongly influences pheno-type
-
Rauschka H., Colsch B., Baumann N., Wevers R., Schmidbauer M., Krammer M., Turpin J. C., Lefevre M., Olivier C., Tardieu S., Krivit W., Moser H., Moser A., Gieselmann V., Zalc B., Cox T., Reuner U., Tylki-Szymanska A., Aboul-Enein F., LeGuern E., Bernheimer H., Berger J., Late-onset metachromatic leukodystrophy: genotype strongly influences pheno-type, Neurology 67 (2006) 859–863.
-
(2006)
Neurology
, vol.67
, pp. 859-863
-
-
Rauschka, H.1
Colsch, B.2
Baumann, N.3
Wevers, R.4
Schmidbauer, M.5
Krammer, M.6
Turpin, J.C.7
Lefevre, M.8
Olivier, C.9
Tardieu, S.10
Krivit, W.11
Moser, H.12
Moser, A.13
Gieselmann, V.14
Zalc, B.15
Cox, T.16
Reuner, U.17
Tylki-Szymanska, A.18
Aboul-Enein, F.19
Leguern, E.20
Bernheimer, H.21
Berger, J.22
more..
-
27
-
-
33749067655
-
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
-
Ries M., Clarke J.T., Whybra C., Timmons M., Robinson C., Schlaggar B.L., Pastores G., Lien Y.H., Kampmann C., Brady R.O., Beck M., Schiffmann R., Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease, Pediatrics 118 (2006) 924–932.
-
(2006)
Pediatrics
, vol.118
, pp. 924-932
-
-
Ries, M.1
Clarke, J.T.2
Whybra, C.3
Timmons, M.4
Robinson, C.5
Schlaggar, B.L.6
Pastores, G.7
Lien, Y.H.8
Kampmann, C.9
Brady, R.O.10
Beck, M.11
Schiffmann, R.12
-
28
-
-
0017636312
-
Unique considerations for genetic counseling in community-based carrier screening programs
-
Rimoin D.L., Greenwald S., Nathan T.J., Kaback M.M., Unique considerations for genetic counseling in community-based carrier screening programs, Progress in clinical and biological research 18 (1977) 297–304.
-
(1977)
Progress in Clinical and Biological Research
, vol.18
, pp. 297-304
-
-
Rimoin, D.L.1
Greenwald, S.2
Nathan, T.J.3
Kaback, M.M.4
-
29
-
-
0025919757
-
Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibro-blasts
-
Rizzo W.B., Craft D.A., Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibro-blasts, The Journal of clinical investigation 88 (1991) 1643–1648.
-
(1991)
The Journal of Clinical Investigation
, vol.88
, pp. 1643-1648
-
-
Rizzo, W.B.1
Craft, D.A.2
-
30
-
-
0023622336
-
Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle
-
Rizzo W.B., Craft D.A., Dammann A.L., Phillips M.W., Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle, The Journal of biological chemistry 262 (1987) 17412–17419.
-
(1987)
The Journal of Biological Chemistry
, vol.262
, pp. 17412-17419
-
-
Rizzo, W.B.1
Craft, D.A.2
Dammann, A.L.3
Phillips, M.W.4
-
31
-
-
0028168989
-
Prenatal diagnosis of Sjogren-Larsson syndrome using enzymatic methods
-
Rizzo W.B., Craft D.A., Kelson T.L., Bonnefont J.P., Saudubray J.M., Schulman J.D., Black S.H., Tabsh K., Dirocco M., Gardner R.J., Prenatal diagnosis of Sjogren-Larsson syndrome using enzymatic methods, Prenatal diagnosis 14 (1994) 577–581.
-
(1994)
Prenatal Diagnosis
, vol.14
, pp. 577-581
-
-
Rizzo, W.B.1
Craft, D.A.2
Kelson, T.L.3
Bonnefont, J.P.4
Saudubray, J.M.5
Schulman, J.D.6
Black, S.H.7
Tabsh, K.8
Dirocco, M.9
Gardner, R.J.10
-
32
-
-
0024475117
-
Sjogren-Larsson syndrome: Inherited defect in the fatty alcohol cycle
-
Rizzo W.B., Dammann A.L., Craft D.A., Black S.H., Tilton A.H., Africk D., Chaves-Carballo E., Holmgren G., Jagell S., Sjogren-Larsson syndrome: inherited defect in the fatty alcohol cycle, The Journal of pediatrics 115 (1989) 228–234.
-
(1989)
The Journal of Pediatrics
, vol.115
, pp. 228-234
-
-
Rizzo, W.B.1
Dammann, A.L.2
Craft, D.A.3
Black, S.H.4
Tilton, A.H.5
Africk, D.6
Chaves-Carballo, E.7
Holmgren, G.8
Jagell, S.9
-
33
-
-
11144298914
-
Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy
-
Roddy T.P., Nelson B.C., Sung C.C., Araghi S., Wilkens D., Zhang X.K., Thomas J.J., Richards S.M., Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy, Clinical chemistry 51 (2005) 237–240.
-
(2005)
Clinical Chemistry
, vol.51
, pp. 237-240
-
-
Roddy, T.P.1
Nelson, B.C.2
Sung, C.C.3
Araghi, S.4
Wilkens, D.5
Zhang, X.K.6
Thomas, J.J.7
Richards, S.M.8
-
34
-
-
0028970501
-
Genetic homogeneity in Sjogren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins
-
Rogers G.R., Rizzo W.B., Zlotogorski A., Hashem N., Lee M., Compton J.G., Bale S.J., Genetic homogeneity in Sjogren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins, American journal of human genetics 57 (1995) 1123–1129.
-
(1995)
American Journal of Human Genetics
, vol.57
, pp. 1123-1129
-
-
Rogers, G.R.1
Rizzo, W.B.2
Zlotogorski, A.3
Hashem, N.4
Lee, M.5
Compton, J.G.6
Bale, S.J.7
-
36
-
-
0001534522
-
Action teratogene du triparanol chez l’animal
-
Roux C., Action teratogene du triparanol chez l’animal, Archives francaises de pediatrie 21 (1964) 451–464.
-
(1964)
Archives Francaises De Pediatrie
, vol.21
, pp. 451-464
-
-
Roux, C.1
-
37
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosyl-ceramide storage in patients with Fabry disease
-
Schiffmann R., Murray G.J., Treco D., Daniel P., Sellos-Moura M., Myers M., Quirk J.M., Zirzow G.C., Borowski M., Loveday K., Anderson T., Gillespie F., Oliver K.L., Jeffries N.O., Doo E., Liang T.J., Kreps C., Gunter K., Frei K., Crutchfield K., Selden R.F., Brady R.O., Infusion of alpha-galactosidase A reduces tissue globotriaosyl-ceramide storage in patients with Fabry disease, Proceedings of the National Academy of Sciences of the United States of America 97 (2000) 365–370.
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
Daniel, P.4
Sellos-Moura, M.5
Myers, M.6
Quirk, J.M.7
Zirzow, G.C.8
Borowski, M.9
Loveday, K.10
Erson, T.11
Gillespie, F.12
Oliver, K.L.13
Jeffries, N.O.14
Doo, E.15
Liang, T.J.16
Kreps, C.17
Gunter, K.18
Frei, K.19
Crutchfield, K.20
Selden, R.F.21
Brady, R.O.22
more..
-
38
-
-
33847238458
-
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer
-
Sevin C., Verot L., Benraiss A., Van Dam D., Bonnin D., Nagels G., Fouquet F., Gieselmann V., Vanier M.T., De Deyn P.P., Aubourg P., Cartier N., Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer, Gene therapy 14 (2007) 405–414.
-
(2007)
Gene Therapy
, vol.14
, pp. 405-414
-
-
Sevin, C.1
Verot, L.2
Benraiss, A.3
Van Dam, D.4
Bonnin, D.5
Nagels, G.6
Fouquet, F.7
Gieselmann, V.8
Vanier, M.T.9
De Deyn, P.P.10
Aubourg, P.11
Cartier, N.12
-
39
-
-
33645830674
-
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation
-
Shen Y., Bodary P.F., Vargas F.B., Homeister J.W., Gordon D., Ostenso K.A., Shayman J.A., Eitzman D.T., Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation, Stroke 37 (2006) 1106–1108.
-
(2006)
Stroke
, vol.37
, pp. 1106-1108
-
-
Shen, Y.1
Bodary, P.F.2
Vargas, F.B.3
Homeister, J.W.4
Gordon, D.5
Ostenso, K.A.6
Shayman, J.A.7
Eitzman, D.T.8
-
40
-
-
0036847353
-
Glucosylceramide modulates membrane traffic along the endocytic pathway
-
Sillence D.J., Puri V., Marks D.L., Butters T.D., Dwek R.A., Pagano R.E., Platt F.M., Glucosylceramide modulates membrane traffic along the endocytic pathway, Journal of lipid research 43 (2002) 1837–1845.
-
(2002)
Journal of Lipid Research
, vol.43
, pp. 1837-1845
-
-
Sillence, D.J.1
Puri, V.2
Marks, D.L.3
Butters, T.D.4
Dwek, R.A.5
Pagano, R.E.6
Platt, F.M.7
-
41
-
-
33644867725
-
The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reti-culum for a cytotoxic effect
-
Smith D.C., Sillence D.J., Falguieres T., Jarvis R.M., Johannes L., Lord J.M., Platt F.M., Roberts L.M., The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reti-culum for a cytotoxic effect, Molecular Biology of the Cell 17 (2006) 1375–1387.
-
(2006)
Molecular Biology of the Cell
, vol.17
, pp. 1375-1387
-
-
Smith, D.C.1
Sillence, D.J.2
Falguieres, T.3
Jarvis, R.M.4
Johannes, L.5
Lord, J.M.6
Platt, F.M.7
Roberts, L.M.8
-
42
-
-
0000139419
-
A Newly Recognized Syndrome of Multiple Congenital Anomalies
-
Smith D.W., Lemli L., Opitz J.M., A Newly Recognized Syndrome of Multiple Congenital Anomalies, The Journal of pediatrics 64 (1964) 210–217.
-
(1964)
The Journal of Pediatrics
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
43
-
-
84934872878
-
Molecular Genetics and Metabolism A phase I clinical study of human CNS stem cells (HUCNS-SC) in patients with neuronal ceroid lipofuscinosis
-
in: Elsevier (Ed.)
-
Steiner R., Koch T., Al-Uzri A., Uchida N., Tamaki S., Tsukamoto A., Guillaume D., Selden N., Molecular Genetics and Metabolism A phase I clinical study of human CNS stem cells (HUCNS-SC) in patients with neuronal ceroid lipofuscinosis, in: Elsevier (Ed.), Molecular genetics and metabolism, Elsevier, 2007, p. 17.
-
(2007)
Molecular Genetics and Metabolism, Elsevier
, pp. 17
-
-
Steiner, R.1
Koch, T.2
Al-Uzri, A.3
Uchida, N.4
Tamaki, S.5
Tsukamoto, A.6
Guillaume, D.7
Selden, N.8
-
44
-
-
0030852331
-
Intracellular signaling events in CD77-mediated apoptosis of Burkitt’s lymphoma cells
-
Taga S., Carlier K., Mishal Z., Capoulade C., Mangeney M., Lecluse Y., Coulaud D., Tetaud C., Pritchard L.L., Tursz T., Wiels J., Intracellular signaling events in CD77-mediated apoptosis of Burkitt’s lymphoma cells, Blood 90 (1997) 2757–2767.
-
(1997)
Blood
, vol.90
, pp. 2757-2767
-
-
Taga, S.1
Carlier, K.2
Mishal, Z.3
Capoulade, C.4
Mangeney, M.5
Lecluse, Y.6
Coulaud, D.7
Tetaud, C.8
Pritchard, L.L.9
Tursz, T.10
Wiels, J.11
-
45
-
-
0027377982
-
Cholesterol defect in Smith-Lemli-Opitz syndrome
-
Tint G.S., Cholesterol defect in Smith-Lemli-Opitz syndrome, American Journal of Medical Genetics 47 (1993) 573–574.
-
(1993)
American Journal of Medical Genetics
, vol.47
, pp. 573-574
-
-
Tint, G.S.1
-
46
-
-
2942675199
-
Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes
-
Trajkovic-Bodennec S., Bodennec J., Futerman A.H., Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes, Blood cells, molecules & diseases 33 (2004) 77–82.
-
(2004)
Blood Cells, Molecules &Amp; Diseases
, vol.33
, pp. 77-82
-
-
Trajkovic-Bodennec, S.1
Bodennec, J.2
Futerman, A.H.3
-
47
-
-
19444384177
-
A method for profiling gangliosides in animal tissues using electrospray ionization-tandem mass spectrometry
-
Tsui Z.C., Chen Q.R., Thomas M.J., Samuel M., Cui Z., A method for profiling gangliosides in animal tissues using electrospray ionization-tandem mass spectrometry, Analytical biochemistry 341 (2005) 251–258.
-
(2005)
Analytical Biochemistry
, vol.341
, pp. 251-258
-
-
Tsui, Z.C.1
Chen, Q.R.2
Thomas, M.J.3
Samuel, M.4
Cui, Z.5
-
48
-
-
33846937578
-
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies
-
Tsuji D., Higashine Y., Matsuoka K., Sakuraba H., Itoh K., Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies, Clinica chimica acta; international journal of clinical chemistry 378 (2007) 38–41.
-
(2007)
Clinica Chimica Acta; International Journal of Clinical Chemistry
, vol.378
, pp. 38-41
-
-
Tsuji, D.1
Higashine, Y.2
Matsuoka, K.3
Sakuraba, H.4
Itoh, K.5
-
49
-
-
0021983721
-
Quantitative analysis of brain gangliosides by high performance liquid chromatography of their perbenzoyl derivatives
-
Ullman M.D., McCluer R.H., Quantitative analysis of brain gangliosides by high performance liquid chromatography of their perbenzoyl derivatives, Journal of lipid research 26 (1985) 501–506.
-
(1985)
Journal of Lipid Research
, vol.26
, pp. 501-506
-
-
Ullman, M.D.1
Mccluer, R.H.2
-
51
-
-
0031137838
-
High incidence of thrombosis in Fabry’s disease
-
Utsumi K., Yamamoto N., Kase R., Takata T., Okumiya T., Saito H., Suzuki T., Uyama E., Sakuraba H., High incidence of thrombosis in Fabry’s disease, Internal Medicine 36 (1997) 327–329.
-
(1997)
Internal Medicine
, vol.36
, pp. 327-329
-
-
Utsumi, K.1
Yamamoto, N.2
Kase, R.3
Takata, T.4
Okumiya, T.5
Saito, H.6
Suzuki, T.7
Uyama, E.8
Sakuraba, H.9
-
52
-
-
0029446930
-
Ganglioside extraction from erythrocytes: A comparison study
-
Wang W.Q., Gustafson A., Ganglioside extraction from erythrocytes: a comparison study, Acta Chemica Scandinavica 49 (1995) 929–936.
-
(1995)
Acta Chemica Scandinavica
, vol.49
, pp. 929-936
-
-
Wang, W.Q.1
Gustafson, A.2
-
53
-
-
18544382242
-
Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: Implications for the prediction of disease severity
-
Whitfield P.D., Nelson P., Sharp P.C., Bindloss C.A., Dean C., Ravenscroft E.M., Fong B.A., Fietz M.J., Hopwood J.J., Meikle P.J., Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity, Molecular genetics and metabolism 75 (2002) 46–55.
-
(2002)
Molecular Genetics and Metabolism
, vol.75
, pp. 46-55
-
-
Whitfield, P.D.1
Nelson, P.2
Sharp, P.C.3
Bindloss, C.A.4
Dean, C.5
Ravenscroft, E.M.6
Fong, B.A.7
Fietz, M.J.8
Hopwood, J.J.9
Meikle, P.J.10
-
54
-
-
0035717736
-
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry
-
Whitfield P.D., Sharp P.C., Johnson D.W., Nelson P., Meikle P.J., Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry, Molecular genetics and metabolism 73 (2001) 30–37.
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, pp. 30-37
-
-
Whitfield, P.D.1
Sharp, P.C.2
Johnson, D.W.3
Nelson, P.4
Meikle, P.J.5
-
55
-
-
0034532555
-
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome
-
Willemsen M.A., Cruysberg J.R., Rotteveel J.J., Aandekerk A.L., Van Domburg P.H., Deutman A.F., Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome, American journal of ophthalmology 130 (2000) 782–789.
-
(2000)
American Journal of Ophthalmology
, vol.130
, pp. 782-789
-
-
Willemsen, M.A.1
Cruysberg, J.R.2
Rotteveel, J.J.3
Aandekerk, A.L.4
Van Domburg, P.H.5
Deutman, A.F.6
-
56
-
-
0035964220
-
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
-
Wisniewski K.E., Zhong N., Philippart M., Pheno/genotypic correlations of neuronal ceroid lipofuscinoses, Neurology 57 (2001) 576–581.
-
(2001)
Neurology
, vol.57
, pp. 576-581
-
-
Wisniewski, K.E.1
Zhong, N.2
Philippart, M.3
-
57
-
-
0034919291
-
Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities
-
Young E.P., Worthington V.C., Jackson M., Winchester B.G., Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities, European Journal of Paediatric Neurology 5 Suppl A (2001) 193–196.
-
(2001)
European Journal of Paediatric Neurology 5 Suppl A
, pp. 193-196
-
-
Young, E.P.1
Worthington, V.C.2
Jackson, M.3
Winchester, B.G.4
|