-
1
-
-
85042336794
-
-
Glew R.H., and Peters S.P. (Eds), Alan R. Liss, New York
-
In: Glew R.H., and Peters S.P. (Eds). Practical enzymology of the sphingolipidosis (1977), Alan R. Liss, New York
-
(1977)
Practical enzymology of the sphingolipidosis
-
-
-
2
-
-
0019307389
-
Chloroquine inhibits lysosomal enzyme pinocytosis and enhances lysosomal enzyme secretion by impairing receptor recycling
-
Gonzalez-Noriega A., Grubb J.H., Talkad V., and Sly W.S. Chloroquine inhibits lysosomal enzyme pinocytosis and enhances lysosomal enzyme secretion by impairing receptor recycling. J Cell Biol 85 (1980) 839-852
-
(1980)
J Cell Biol
, vol.85
, pp. 839-852
-
-
Gonzalez-Noriega, A.1
Grubb, J.H.2
Talkad, V.3
Sly, W.S.4
-
3
-
-
0000889058
-
α-Galactosidase a deficiency: Fabry disease
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Desnick R.J., Ioannou Y.A., and Eng C.M. α-Galactosidase a deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York 3733-3774
-
(2001)
The metabolic and molecular bases of inherited disease. 8th ed.
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
4
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M., Bradova V., Smid F., et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch, A Pathol Anat Histopathol 417 (1990) 449-455
-
(1990)
Virchows Arch, A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
-
5
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W., Eng C.M., Fitzmaurice T.F., et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324 (1991) 395-399
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
-
6
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S., Takeoka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takeoka, T.2
Maeda, M.3
-
7
-
-
0030936819
-
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
-
Takata T., Okumiya T., Hayashibe H., et al. Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. Brain Dev 19 (1997) 111-116
-
(1997)
Brain Dev
, vol.19
, pp. 111-116
-
-
Takata, T.1
Okumiya, T.2
Hayashibe, H.3
-
8
-
-
0019464277
-
Differential assay for lysosomal α-galactosidase in human tissues and its application to Fabry's disease
-
Mayes J.S., Scheerer J.B., Sifers R.N., and Donaldson M.L. Differential assay for lysosomal α-galactosidase in human tissues and its application to Fabry's disease. Clin Chim Acta 112 (1981) 247-251
-
(1981)
Clin Chim Acta
, vol.112
, pp. 247-251
-
-
Mayes, J.S.1
Scheerer, J.B.2
Sifers, R.N.3
Donaldson, M.L.4
-
9
-
-
0018890975
-
A procedure for the quantitative isolation of brain gangliosides
-
Svennerholm L., and Fredman P. A procedure for the quantitative isolation of brain gangliosides. Biochim Biophys Acta 617 (1980) 97-109
-
(1980)
Biochim Biophys Acta
, vol.617
, pp. 97-109
-
-
Svennerholm, L.1
Fredman, P.2
-
10
-
-
0024459775
-
Phospholipid content and fatty acid composition of human heart
-
Rocquelin G., Guenot L., Astorg P.O., and David M. Phospholipid content and fatty acid composition of human heart. Lipids 24 (1989) 775-780
-
(1989)
Lipids
, vol.24
, pp. 775-780
-
-
Rocquelin, G.1
Guenot, L.2
Astorg, P.O.3
David, M.4
-
11
-
-
0028216629
-
Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine
-
Kotani M., Kawashima I., Ozawa H., Ogura K., Ariga T., and Tai T. Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine. Arch Biochem Biophys 310 (1994) 89-96
-
(1994)
Arch Biochem Biophys
, vol.310
, pp. 89-96
-
-
Kotani, M.1
Kawashima, I.2
Ozawa, H.3
Ogura, K.4
Ariga, T.5
Tai, T.6
-
12
-
-
0020009821
-
Gangliosides: structure, isolation, and analysis
-
Ledeen R.W., and Yu R.K. Gangliosides: structure, isolation, and analysis. Methods Enzymol 83 (1982) 139-191
-
(1982)
Methods Enzymol
, vol.83
, pp. 139-191
-
-
Ledeen, R.W.1
Yu, R.K.2
-
13
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick R.J., Brady R., Barranger J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
-
14
-
-
0032445681
-
Lysosomal alterations induced in cultured rat fibroblasts by long-term exposure to low concentrations of azithromycin
-
Van Bambeke F., Gerbaux C., Michot J.-M., d'Yvoire M.B., Montenez J.-P., and Tulkens P.M. Lysosomal alterations induced in cultured rat fibroblasts by long-term exposure to low concentrations of azithromycin. J Antimicrob Chemother 42 (1998) 761-767
-
(1998)
J Antimicrob Chemother
, vol.42
, pp. 761-767
-
-
Van Bambeke, F.1
Gerbaux, C.2
Michot, J.-M.3
d'Yvoire, M.B.4
Montenez, J.-P.5
Tulkens, P.M.6
-
15
-
-
33747833787
-
Mucolipidosis IV: a phospholipidosis
-
Philippart M., Anderson M., Kamp K., Crandall B.R., and Brown W.J. Mucolipidosis IV: a phospholipidosis. Trans Am Soc Neurochem 11 (1980) 72
-
(1980)
Trans Am Soc Neurochem
, vol.11
, pp. 72
-
-
Philippart, M.1
Anderson, M.2
Kamp, K.3
Crandall, B.R.4
Brown, W.J.5
-
16
-
-
0023747054
-
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts
-
Bargal R., and Bach G. Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. J Inherit Metab Dis 11 (1988) 144-150
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 144-150
-
-
Bargal, R.1
Bach, G.2
-
17
-
-
0016725463
-
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV
-
Bach G., Cohen M.M., and Kohn G. Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. Biochem Biophys Res Commun 66 (1975) 1483-1490
-
(1975)
Biochem Biophys Res Commun
, vol.66
, pp. 1483-1490
-
-
Bach, G.1
Cohen, M.M.2
Kohn, G.3
-
18
-
-
0020431588
-
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
-
Caimi L., Tettamanti G., Berra B., et al. Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. J Inherit Metab Dis 5 (1982) 218-224
-
(1982)
J Inherit Metab Dis
, vol.5
, pp. 218-224
-
-
Caimi, L.1
Tettamanti, G.2
Berra, B.3
-
19
-
-
0034641869
-
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
-
Sun M., Goldin E., Stahl S., et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 9 (2000) 2471-2478
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2471-2478
-
-
Sun, M.1
Goldin, E.2
Stahl, S.3
-
20
-
-
12144285845
-
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel
-
Raychowdhury M.K., González-Perrett S., Montalbetti N., et al. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. Hum Mol Genet 13 (2004) 617-627
-
(2004)
Hum Mol Genet
, vol.13
, pp. 617-627
-
-
Raychowdhury, M.K.1
González-Perrett, S.2
Montalbetti, N.3
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