-
1
-
-
33846083753
-
Chitotriosidase: the yin and yang
-
Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol Life Sci 63 (2006) 3018-3029
-
(2006)
Cell Mol Life Sci
, vol.63
, pp. 3018-3029
-
-
Malaguarnera, L.1
-
2
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak C.E.M., van Weely S., van Oers M.H.J., and Aerts J.M.F.G. 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.M.1
van Weely, S.2
van Oers, M.H.J.3
Aerts, J.M.F.G.4
-
3
-
-
10744229163
-
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
-
Baldellow A., Andria G., Campbell P.E., et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 163 (2004) 67-75
-
(2004)
Eur J Pediatr
, vol.163
, pp. 67-75
-
-
Baldellow, A.1
Andria, G.2
Campbell, P.E.3
-
4
-
-
4744358540
-
Gaucher disease type I: revised recommendations on evaluations and monitoring for adult patients
-
Weinreb N.J., Aggio M.C., Andersson H.C., et al. Gaucher disease type I: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 41 suppl 5 (2004) 15-22
-
(2004)
Semin Hematol
, vol.41
, Issue.SUPPL. 5
, pp. 15-22
-
-
Weinreb, N.J.1
Aggio, M.C.2
Andersson, H.C.3
-
5
-
-
0029565165
-
Elevated plasma chitotriosidase activity in various lysosomal storage disorders
-
Guo Y., He W., Boer A.M., et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 18 (1995) 717-722
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 717-722
-
-
Guo, Y.1
He, W.2
Boer, A.M.3
-
6
-
-
4644275790
-
The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update
-
Michelakakis H., Dimitriou E., and Labadaridis I. The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update. J Inherit Metab Dis 27 (2004) 705-706
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 705-706
-
-
Michelakakis, H.1
Dimitriou, E.2
Labadaridis, I.3
-
7
-
-
33748714980
-
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
-
Ries M., Schaefer E., Lührs T., et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 29 (2006) 647-652
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 647-652
-
-
Ries, M.1
Schaefer, E.2
Lührs, T.3
-
8
-
-
33847204944
-
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease
-
Wajner A., Michelin K., Burin M.G., et al. Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. Clin Biochem 40 (2007) 365-369
-
(2007)
Clin Biochem
, vol.40
, pp. 365-369
-
-
Wajner, A.1
Michelin, K.2
Burin, M.G.3
-
9
-
-
33748957309
-
Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
-
Vedder A.C., Cox-Brinkman J., Hollak C.E.M., et al. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. Molec Genet Metab 89 (2006) 239-244
-
(2006)
Molec Genet Metab
, vol.89
, pp. 239-244
-
-
Vedder, A.C.1
Cox-Brinkman, J.2
Hollak, C.E.M.3
-
10
-
-
0001261457
-
I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Kornfeld S., and Sly W.S. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 3469-3482
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3469-3482
-
-
Kornfeld, S.1
Sly, W.S.2
-
11
-
-
0031039858
-
Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase
-
Renkema G.H., Boot R.G., Strijland A., et al. Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase. Eur J Biochem 244 (1997) 279-285
-
(1997)
Eur J Biochem
, vol.244
, pp. 279-285
-
-
Renkema, G.H.1
Boot, R.G.2
Strijland, A.3
|