|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We assessed their biomarker potential in Gaucher disease and compared them to established Gaucher disease biomarkers, chitotriosidase, chemokine ligand 18 (CCL18), and other indicators of disease severity and response to therapy.
|
31358474 |
2020 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The biochemical investigation for the plasma chitotriosidase enzyme activity and β-Glucosidase enzyme activity confirmed the Gaucher disease.
|
30764785 |
2019 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Low glucocerebrosidase and high chitotriosidase levels were indicative for GD.
|
29945135 |
2019 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To assess association between ChT genotype, and clinical/biochemical features of GD were performed CHIT1 genotyping for: c.1049_1072dup24, p.Gly102Ser, p.Gly354Arg, c.1155_1156 + 2delGAGT, c.1156 + 5_1156 + 8delGTAA, p.Ala442Val/Gly and the rearrangement delE/I-10.
|
30695688 |
2019 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Also, an elevated level of plasma Chitotriosidase activity in five patients supported their diagnosis of Gaucher disease.
|
30285649 |
2018 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Chitotriosidase showed specific elevations in symptomatic Gaucher disease, and was mildly elevated in all other lipid storage disorders.
|
29290526 |
2018 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease.
|
28457694 |
2018 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
There are two biomarkers used to assess the severity of GD - chitotriosidase has been measured for over 20 years, and deacylated GlcCer, known as glucosylsphingosine (GlcSph) is thought to be even more adequate, as it is almost a direct storage substrate.
|
29530534 |
2018 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Chitotriosidase, an enzyme secreted by activated macrophages, is widely used as a biomarker for therapeutic monitoring and patient follow-up in Gaucher disease (GD), a lysosomal disorder caused by an inherited deficiency of glucocerebrosidase.
|
28319420 |
2017 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
BMSi was correlated with chitotriosidase, the marker of GD activity.
|
28263001 |
2017 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
In view of these findings of distinguishable fold elevation of chitotriosidase in Gaucher disease or Niemann Pick A/B, it can be a potential surrogate differential diagnostic marker for these groups of diseases, except in the patients in whom this enzyme is deficient.
|
26975750 |
2016 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patients with GD had elevated chitotriosidase, serum TRACP-5b, and CCL-3 levels (P < 0.001).
|
25645321 |
2015 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Two patients with Gaucher disease (13.3%) had normal plasma chitotriosidase activity, and carried a homozygous 24 bp duplication of exon 10 of the CHIT1 gene.
|
24621582 |
2014 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.
|
24060732 |
2013 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Of interest, this patient had decreased activity of leukocyte acid β-glucosidase activity and elevated serum chitotriosidase to levels often seen in GD.
|
20882348 |
2010 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Plasma chitotriosidase activity reflects the presence of lipid-laden macrophages in patients with Gaucher disease.
|
19725875 |
2009 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
We also demonstrated that all CT kinetic parameters evaluated (optimum pH, Km, Vmax, thermal stability) in plasma of GD, KD and GM1 patients were significantly different from those of normal individuals.
|
17291472 |
2007 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
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.
|
17291472 |
2007 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Chitotriosidase (CT) is a surrogate plasma marker for Gaucher disease.
|
17408605 |
2007 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
CTD_human |
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
|
17464953 |
2007 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
|
17464953 |
2007 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We conclude that, in the above setting, the degree of elevation of chitotriosidase activity can be applied to increase the likelihood of GD, SMD, or NPC and guide the choice of the appropriate confirmatory assay.
|
16972172 |
2006 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Like the situation in Gaucher disease, lipids accumulate in macrophages of patients suffering from beta-thalassemia, and, in both conditions, increased chitotriosidase levels occur.
|
16137900 |
2006 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Plasma chitotriosidase levels are elevated on average 1000-fold in symptomatic patients with Gaucher disease and reflect the body burden on storage cells.
|
15895711 |
2005 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The determination of chitotriosidase levels as a diagnosis complement in some lysosomal storage disorders and in enzyme replacement therapy follow-up of Gaucher disease patients is of great importance.
|
15528158 |
2005 |