-
1
-
-
0038100163
-
Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention
-
Aerts J.M., Hollak C., Boot R., Groener A. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos. Trans. R. Soc. Lond. B Biol. Sci. 2003, 358:905-914.
-
(2003)
Philos. Trans. R. Soc. Lond. B Biol. Sci.
, vol.358
, pp. 905-914
-
-
Aerts, J.M.1
Hollak, C.2
Boot, R.3
Groener, A.4
-
2
-
-
79959803398
-
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
-
Aerts J.M.F.G., et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J. Inherit. Metab. Dis. 2011, 34:605-619.
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 605-619
-
-
Aerts, J.M.F.G.1
-
3
-
-
0037402451
-
Plasma chitotriosidase activity in acute Plasmodium falciparum malaria
-
Barone R., Simporé J., Malaguarnera L., Pignatelli S., Musumeci S. Plasma chitotriosidase activity in acute Plasmodium falciparum malaria. Clin. Chim. Acta 2003, 331:79-85.
-
(2003)
Clin. Chim. Acta
, vol.331
, pp. 79-85
-
-
Barone, R.1
Simporé, J.2
Malaguarnera, L.3
Pignatelli, S.4
Musumeci, S.5
-
4
-
-
78751579162
-
Laboratory and genetic evaluation of Gaucher disease
-
Bodamer O.A., Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien. Med. Wochenschr. 2010, 160:600-604.
-
(2010)
Wien. Med. Wochenschr.
, vol.160
, pp. 600-604
-
-
Bodamer, O.A.1
Hung, C.2
-
5
-
-
2442491031
-
Correlation of surrogate markers of Gaucher disease: implications for long-term follow up of enzyme replacement therapy
-
Cabrera-Salazar M.a, O'Rourke E., Henderson N., Wessel H., Barranger J.a Correlation of surrogate markers of Gaucher disease: implications for long-term follow up of enzyme replacement therapy. Clin. Chim. Acta 2004, 344:101-107.
-
(2004)
Clin. Chim. Acta
, vol.344
, pp. 101-107
-
-
Cabrera-Salazar, M.A.1
O'Rourke, E.2
Henderson, N.3
Wessel, H.4
Barranger, J.A.5
-
6
-
-
84856344278
-
Gaucher disease and the synucleinopathies: refining the relationship
-
Campbell T.N., Choy F.Y.M. Gaucher disease and the synucleinopathies: refining the relationship. Orphanet J. Rare Dis. 2012, 7:12.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. 12
-
-
Campbell, T.N.1
Choy, F.Y.M.2
-
7
-
-
0036155174
-
Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
-
Chamoles N.A., Blanco M., Gaggioli D., Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin. Chim. Acta 2002, 317:191-197.
-
(2002)
Clin. Chim. Acta
, vol.317
, pp. 191-197
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
Casentini, C.4
-
8
-
-
0037409218
-
The angiotensin converting enzyme (ACE)
-
Coates D. The angiotensin converting enzyme (ACE). Int. J. Biochem. Cell Biol. 2003, 35:769-773.
-
(2003)
Int. J. Biochem. Cell Biol.
, vol.35
, pp. 769-773
-
-
Coates, D.1
-
9
-
-
84876742226
-
Endothelial dysfunction and regulation
-
CRC Press, London, P.J. Vallance, D.J. Webb (Eds.)
-
Corti R., Sudano I., Binggeli C., Nava E., Noll G., Lüscher T.F. Endothelial dysfunction and regulation. Vascular Endothelium in Human Physiology and Pathophysiology 2000, 302. CRC Press, London. P.J. Vallance, D.J. Webb (Eds.).
-
(2000)
Vascular Endothelium in Human Physiology and Pathophysiology
, pp. 302
-
-
Corti, R.1
Sudano, I.2
Binggeli, C.3
Nava, E.4
Noll, G.5
Lüscher, T.F.6
-
10
-
-
0029041265
-
Peptidyl dipeptidase A: angiotensin I-converting enzyme
-
Corvol P., Williams T.A., Soubrier F. Peptidyl dipeptidase A: angiotensin I-converting enzyme. Methods Enzymol. 1995, 248:283-305.
-
(1995)
Methods Enzymol.
, vol.248
, pp. 283-305
-
-
Corvol, P.1
Williams, T.A.2
Soubrier, F.3
-
11
-
-
0035157905
-
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
-
Cox T. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J. Inherit. Metab. Dis. 2001, 24:107-123.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 107-123
-
-
Cox, T.1
-
12
-
-
84866294957
-
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
-
Daitx V.V., Mezzalira J., Goldim M.P.D.S., Coelho J.C. Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma. Clin. Biochem. 2012, 45:1233-1238.
-
(2012)
Clin. Biochem.
, vol.45
, pp. 1233-1238
-
-
Daitx, V.V.1
Mezzalira, J.2
Goldim, M.P.D.S.3
Coelho, J.C.4
-
14
-
-
33751040151
-
Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data
-
Elleder M. Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J. Inherit. Metab. Dis. 2006, 29:707-715.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 707-715
-
-
Elleder, M.1
-
16
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher's disease
-
Grabowski G.A. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008, 372:1263-1271.
-
(2008)
Lancet
, vol.372
, pp. 1263-1271
-
-
Grabowski, G.A.1
-
17
-
-
34848926255
-
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
-
Grace M.E., Balwani M., Nazarenko I., Prakash-Cheng A., Desnick R.J. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum. Mutat. 2007, 28:866-873.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 866-873
-
-
Grace, M.E.1
Balwani, M.2
Nazarenko, I.3
Prakash-Cheng, A.4
Desnick, R.J.5
-
18
-
-
39149125480
-
Human chitotriosidase is expressed in the eye and lacrimal gland and has an antimicrobial spectrum different from lysozyme
-
Hall A.J., Morroll S., Tighe P., Götz F., Falcone F.H. Human chitotriosidase is expressed in the eye and lacrimal gland and has an antimicrobial spectrum different from lysozyme. Microbes Infect. 2008, 10:69-78.
-
(2008)
Microbes Infect.
, vol.10
, pp. 69-78
-
-
Hall, A.J.1
Morroll, S.2
Tighe, P.3
Götz, F.4
Falcone, F.H.5
-
19
-
-
0021449898
-
Automated kinetic determination of angiotensin-converting enzyme in serum
-
Harjanne A. Automated kinetic determination of angiotensin-converting enzyme in serum. Clin. Chem. 1984, 30:901-902.
-
(1984)
Clin. Chem.
, vol.30
, pp. 901-902
-
-
Harjanne, A.1
-
20
-
-
84876744496
-
-
HGNC Database, HUGO Gene Nomenclature Committee (HGNC), EMBL Outstation - Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK. Jan
-
HGNC Database, HUGO Gene Nomenclature Committee (HGNC), EMBL Outstation - Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK. Jan, 2013. URL: http://www.genenames.org.
-
(2013)
-
-
-
21
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease
-
Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93:1288-1292.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1288-1292
-
-
Hollak, C.E.1
van Weely, S.2
van Oers, M.H.3
Aerts, J.M.4
-
22
-
-
17644422131
-
Gaucher disease: pathological mechanisms and modern management
-
Jmoudiak M., Futerman A.H. Gaucher disease: pathological mechanisms and modern management. Br. J. Haematol. 2005, 129:178-188.
-
(2005)
Br. J. Haematol.
, vol.129
, pp. 178-188
-
-
Jmoudiak, M.1
Futerman, A.H.2
-
23
-
-
85128450945
-
Human chitinases and chitinase-like proteins as indicators for inflammation and cancer
-
Kzhyshkowska J., Gratchev A., Goerdt S. Human chitinases and chitinase-like proteins as indicators for inflammation and cancer. Biomark. Insights 2007, 2:128-146.
-
(2007)
Biomark. Insights
, vol.2
, pp. 128-146
-
-
Kzhyshkowska, J.1
Gratchev, A.2
Goerdt, S.3
-
24
-
-
73749086318
-
Not just angiotensinases: new roles for the angiotensin-converting enzymes
-
Lambert D.W., Clarke N.E., Turner A.J. Not just angiotensinases: new roles for the angiotensin-converting enzymes. Cell Mol. Life Sci. 2010, 67:89-98.
-
(2010)
Cell Mol. Life Sci.
, vol.67
, pp. 89-98
-
-
Lambert, D.W.1
Clarke, N.E.2
Turner, A.J.3
-
25
-
-
39049121722
-
Current development and usefulness of biomarkers for Gaucher disease follow up
-
Maire I., Guffon N., Froissart R. Current development and usefulness of biomarkers for Gaucher disease follow up. Rev. Med. Interne 2007, 28:S187.
-
(2007)
Rev. Med. Interne
, vol.28
-
-
Maire, I.1
Guffon, N.2
Froissart, R.3
-
26
-
-
56049125463
-
The role of current biomarkers in the management of lysosomal storage disorders
-
Maire I., Guffon N., Piraud M., Froissart R. The role of current biomarkers in the management of lysosomal storage disorders. Clin. Ther. 2008, 30:S90-S91.
-
(2008)
Clin. Ther.
, vol.30
-
-
Maire, I.1
Guffon, N.2
Piraud, M.3
Froissart, R.4
-
27
-
-
33846083753
-
Chitotriosidase: the yin and yang
-
Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol. Life Sci. 2006, 63:3018-3029.
-
(2006)
Cell Mol. Life Sci.
, vol.63
, pp. 3018-3029
-
-
Malaguarnera, L.1
-
28
-
-
84876728831
-
-
in press. The role of angiotensin II in nonalcoholic steatohepatitis. Mol. Cell. Endocrinol
-
Matthew Morris, E., Fletcher, J. A, Thyfault, J.P., Scott Rector, R., in press. The role of angiotensin II in nonalcoholic steatohepatitis. Mol. Cell. Endocrinol. 1-12.
-
-
-
Matthew Morris, E.1
Fletcher, J.A.2
Thyfault, J.P.3
Scott Rector, R.4
-
29
-
-
38849113202
-
What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research
-
McDade T., Williams S., Snodgrass J. What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research. Demography 2007, 44:899-925.
-
(2007)
Demography
, vol.44
, pp. 899-925
-
-
McDade, T.1
Williams, S.2
Snodgrass, J.3
-
30
-
-
27744558023
-
Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers
-
Michelin K., et al. Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers. Clin. Chim. Acta 2005, 362:101-109.
-
(2005)
Clin. Chim. Acta
, vol.362
, pp. 101-109
-
-
Michelin, K.1
-
31
-
-
77951945213
-
Lysosomal storage disease: revealing lysosomal function and physiology
-
Parkinson-Lawrence E.J., Shandala T., Prodoehl M., Plew R., Borlace G.N., Brooks D. Lysosomal storage disease: revealing lysosomal function and physiology. Physiology (Bethesda) 2010, 25:102-115.
-
(2010)
Physiology (Bethesda)
, vol.25
, pp. 102-115
-
-
Parkinson-Lawrence, E.J.1
Shandala, T.2
Prodoehl, M.3
Plew, R.4
Borlace, G.N.5
Brooks, D.6
-
32
-
-
0020538456
-
Direct spectrophotometric assay for angiotensin-converting enzyme in serum
-
Ronca-Testoni S. Direct spectrophotometric assay for angiotensin-converting enzyme in serum. Clin. Chem. 1983, 29:1093-1096.
-
(1983)
Clin. Chem.
, vol.29
, pp. 1093-1096
-
-
Ronca-Testoni, S.1
-
33
-
-
79960377766
-
Biomarkers in Serbian patients with Gaucher disease
-
Sumarac Z., et al. Biomarkers in Serbian patients with Gaucher disease. Clin. Biochem. 2011, 44:950-954.
-
(2011)
Clin. Biochem.
, vol.44
, pp. 950-954
-
-
Sumarac, Z.1
-
34
-
-
84876712126
-
Evaluation of chitotriosidase in dried blood spot collected of filter paper: reference values in control subjects and patients with lysosomal storage diseases
-
Uribe A. Evaluation of chitotriosidase in dried blood spot collected of filter paper: reference values in control subjects and patients with lysosomal storage diseases. Rev. Investig. Clin. 2009, 61:23 - 23.
-
(2009)
Rev. Investig. Clin.
, vol.61
-
-
Uribe, A.1
-
35
-
-
84876706591
-
-
Chitotriosidase levels in dried blood spots: application of a microtechnique to the normal population and patients with lysosomal disorders. Clin. Biochem
-
Uribe, A., Pacheco, N., submitted for publication. Chitotriosidase levels in dried blood spots: application of a microtechnique to the normal population and patients with lysosomal disorders. Clin. Biochem. 1-13.
-
submitted for publication
, pp. 1-13
-
-
Uribe, A.1
Pacheco, N.2
-
36
-
-
14144255733
-
Lysosomal storage disorders
-
Vellodi A. Lysosomal storage disorders. Br. J. Haematol. 2005, 128:413-431.
-
(2005)
Br. J. Haematol.
, vol.128
, pp. 413-431
-
-
Vellodi, A.1
-
37
-
-
19944392620
-
Evaluation of three biochemical markers in the monitoring of Gaucher disease
-
Vellodi A., Foo Y., Cole T.J. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J. Inherit. Metab. Dis. 2005, 28:585-592.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 585-592
-
-
Vellodi, A.1
Foo, Y.2
Cole, T.J.3
-
38
-
-
4444309233
-
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases
-
Wajner A., et al. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. Clin. Biochem. 2004, 37:893-897.
-
(2004)
Clin. Biochem.
, vol.37
, pp. 893-897
-
-
Wajner, A.1
|