|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Chitotriosidase and human cartilage gp-39 (HC gp-39) are members of the chitinase family of proteins and are expressed in lipid-laden macrophages accumulated in various organs during Gaucher disease.
|
10073974 |
1999 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Chitotriosidase (CT) is a surrogate plasma marker for Gaucher disease.
|
17408605 |
2007 |
|
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 |
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 |
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 |
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 |
BMSi was correlated with chitotriosidase, the marker of GD activity.
|
28263001 |
2017 |
|
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 |
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 |
In conclusion, plasma chitotriosidase and CCL18 may also serve as markers for the formation of pathological lipid-laden macrophages in type B NPD, in analogy to Gaucher disease.
|
15702402 |
2005 |
|
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 |
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 |
Low glucocerebrosidase and high chitotriosidase levels were indicative for GD.
|
29945135 |
2019 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
No correlation was found between TNF-alpha genotypes and chitotriosidase levels, a putative biochemical marker for Gaucher disease severity.
|
15919211 |
2005 |
|
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 |
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 |
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 |
Plasma chitotriosidase activity reflects the presence of lipid-laden macrophages in patients with Gaucher disease.
|
19725875 |
2009 |
|
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 |
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 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
To our knowledge, beta-thalassemia is hitherto the only disorder in which an increase of plasma chitotriosidase, comparable to that seen in Gaucher disease, may occur.
|
10349508 |
1999 |
|
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 |
Biomarker
|
disease |
CTD_human |
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
|
17464953 |
2007 |