-
1
-
-
0013927537
-
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
-
Brady R.O., Kanfer J.N., Bradley R.M., et al. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J. Clin. Invest. 45 (1966) 1112-1115
-
(1966)
J. Clin. Invest.
, vol.45
, pp. 1112-1115
-
-
Brady, R.O.1
Kanfer, J.N.2
Bradley, R.M.3
-
2
-
-
0000216808
-
Gaucher disease
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Beutler E., and Grabowski G.A. Gaucher disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 3635-3668
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
3
-
-
0024320293
-
Prediction of severity of Gaucher's disease by identification of mutations at DNA level
-
Zimran A., Sorge J., Gross E., et al. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2 (1989) 349-352
-
(1989)
Lancet
, vol.2
, pp. 349-352
-
-
Zimran, A.1
Sorge, J.2
Gross, E.3
-
4
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores G.M., Weinreb N.J., Aerts H., et al. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol. 41 (2004) 4-14
-
(2004)
Semin. Hematol.
, vol.41
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
-
5
-
-
33745108808
-
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
-
Gelb M.H., Turecek F., Scott C.R., et al. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J. Inherit. Metab. Dis. 29 (2006) 397-404
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 397-404
-
-
Gelb, M.H.1
Turecek, F.2
Scott, C.R.3
-
6
-
-
33746284598
-
Newborn screening for lysosomal storage disorders
-
Meikle P.J., Grasby D.J., Dean C.J., et al. Newborn screening for lysosomal storage disorders. Mol. Genet. Metab. 88 (2006) 307-314
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 307-314
-
-
Meikle, P.J.1
Grasby, D.J.2
Dean, C.J.3
-
7
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak C.E., van Weely S., van Oers M.H., et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 93 (1994) 1288-1292
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1288-1292
-
-
Hollak, C.E.1
van Weely, S.2
van Oers, M.H.3
-
8
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
-
Boot R.G., Verhoek M., de Fost M., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 103 (2004) 33-39
-
(2004)
Blood
, vol.103
, pp. 33-39
-
-
Boot, R.G.1
Verhoek, M.2
de Fost, M.3
-
9
-
-
0036219584
-
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
-
Gornati R., Berra B., Montorfano G., et al. Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease. J. Inherit. Metab. Dis. 25 (2002) 47-55
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 47-55
-
-
Gornati, R.1
Berra, B.2
Montorfano, G.3
-
10
-
-
2942675199
-
Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes
-
Trajkovic-Bodennec S., Bodennec J., and Futerman A.H. Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes. Blood Cells Mol. Diseases 33 (2004) 77-82
-
(2004)
Blood Cells Mol. Diseases
, vol.33
, pp. 77-82
-
-
Trajkovic-Bodennec, S.1
Bodennec, J.2
Futerman, A.H.3
-
11
-
-
0036832286
-
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide
-
Bodennec J., Pelled D., Riebeling C., et al. Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide. FASEB J. 16 (2002) 1814-1816
-
(2002)
FASEB J.
, vol.16
, pp. 1814-1816
-
-
Bodennec, J.1
Pelled, D.2
Riebeling, C.3
-
12
-
-
33749062163
-
Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options
-
Kacher Y., and Futerman A.H. Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options. FEBS Lett. 580 (2006) 5510-5517
-
(2006)
FEBS Lett.
, vol.580
, pp. 5510-5517
-
-
Kacher, Y.1
Futerman, A.H.2
-
13
-
-
70449158340
-
A simple method for the isolation and purification of total lipides from animal tissues
-
Folch J., Lees M., and Sloane Stanley G.H. A simple method for the isolation and purification of total lipides from animal tissues. J. Biol. Chem. 226 (1957) 497-509
-
(1957)
J. Biol. Chem.
, vol.226
, pp. 497-509
-
-
Folch, J.1
Lees, M.2
Sloane Stanley, G.H.3
-
14
-
-
0033515841
-
Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages
-
Langmann T., Klucken J., Reil M., et al. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Commun. 257 (1999) 29-33
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.257
, pp. 29-33
-
-
Langmann, T.1
Klucken, J.2
Reil, M.3
-
15
-
-
0033613166
-
Cholesterol efflux to apolipoprotein AI involves endocytosis and resecretion in a calcium-dependent pathway
-
Takahashi Y., and Smith J.D. Cholesterol efflux to apolipoprotein AI involves endocytosis and resecretion in a calcium-dependent pathway. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 11358-11363
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 11358-11363
-
-
Takahashi, Y.1
Smith, J.D.2
-
16
-
-
0020353159
-
Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III
-
Nilsson O., Hakansson G., Dreborg S., et al. Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III. Clin. Genet. 22 (1982) 274-279
-
(1982)
Clin. Genet.
, vol.22
, pp. 274-279
-
-
Nilsson, O.1
Hakansson, G.2
Dreborg, S.3
-
17
-
-
0017398114
-
Quantitative analysis of plasma neutral glycosphingolipids by high performance liquid chromatography of their perbenzoyl derivatives
-
Ullman M.D., and McCluer R.H. Quantitative analysis of plasma neutral glycosphingolipids by high performance liquid chromatography of their perbenzoyl derivatives. J. Lipid Res. 18 (1977) 371-378
-
(1977)
J. Lipid Res.
, vol.18
, pp. 371-378
-
-
Ullman, M.D.1
McCluer, R.H.2
-
18
-
-
0017358781
-
Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions
-
Dawson G., and Oh J.Y. Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions. Clin. Chim. Acta 75 (1977) 149-153
-
(1977)
Clin. Chim. Acta
, vol.75
, pp. 149-153
-
-
Dawson, G.1
Oh, J.Y.2
-
19
-
-
0020566022
-
HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease
-
Strasberg P.M., Warren I., Skomorowski M.A., et al. HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease. Clin. Chim. Acta 132 (1983) 29-41
-
(1983)
Clin. Chim. Acta
, vol.132
, pp. 29-41
-
-
Strasberg, P.M.1
Warren, I.2
Skomorowski, M.A.3
-
20
-
-
0018894267
-
Application of "high-performance" liquid chromatography to the study of sphingolipidoses
-
Ullman M.D., Pyeritz R.E., Moser H.W., et al. Application of "high-performance" liquid chromatography to the study of sphingolipidoses. Clin. Chem. 26 (1980) 1499-1503
-
(1980)
Clin. Chem.
, vol.26
, pp. 1499-1503
-
-
Ullman, M.D.1
Pyeritz, R.E.2
Moser, H.W.3
-
21
-
-
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., et al. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol. Genet. Metab. 75 (2002) 46-55
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 46-55
-
-
Whitfield, P.D.1
Nelson, P.2
Sharp, P.C.3
-
22
-
-
0036734611
-
The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity
-
Henneberry A.L., Wright M.M., and McMaster C.R. The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity. Mol. Biol. Cell 13 (2002) 3148-3161
-
(2002)
Mol. Biol. Cell
, vol.13
, pp. 3148-3161
-
-
Henneberry, A.L.1
Wright, M.M.2
McMaster, C.R.3
-
23
-
-
0035896516
-
Highly saturated endonuclear phosphatidylcholine is synthesized in situ and colocated with CDP-choline pathway enzymes
-
Hunt A.N., Clark G.T., Attard G.S., et al. Highly saturated endonuclear phosphatidylcholine is synthesized in situ and colocated with CDP-choline pathway enzymes. J. Biol. Chem. 276 (2001) 8492-8499
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 8492-8499
-
-
Hunt, A.N.1
Clark, G.T.2
Attard, G.S.3
-
24
-
-
25444443570
-
Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids
-
Kolter T., and Sandhoff K. Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. Annu. Rev. Cell Dev. Biol. 21 (2005) 81-103
-
(2005)
Annu. Rev. Cell Dev. Biol.
, vol.21
, pp. 81-103
-
-
Kolter, T.1
Sandhoff, K.2
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