Abstract：
OBJECTIVES:The aim of the present study was to establish the range of chitotriosidase (CT) activity in normal individuals, patients with Gaucher disease (GD) and Niemann-Pick disease (NPD), types A or B. The kinetics of CT in these three groups was also investigated. DESIGN AND METHODS:CT activity, as well as Km, Vmax, optimum pH, and thermal stability of the enzyme were determined in the plasma of control, GD, and NPD subjects. RESULTS:CT activity in GD and NPD patients was, respectively, around 600-fold and 30-fold greater than in normal individuals. We observed significant differences in optimum pH, Vmax, and thermal stability between the various groups. Km was different in normal individuals relative to GD and NPD patients. However, there was no significant difference between Km values in patients with GD and with NPD. CONCLUSIONS:Based on the differences found in the biochemical parameters studied, our results may be important to help the identification of patients not only with GD but also with NPD.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Wajner A,Michelin K,Burin MG,Pires RF,Pereira ML,Giugliani R,Coelho JCdoi
10.1016/j.clinbiochem.2004.06.008subject
Has Abstractpub_date
2004-10-01 00:00:00pages
893-7issue
10eissn
0009-9120issn
1873-2933pii
S0009-9120(04)00173-0journal_volume
37pub_type
杂志文章abstract：:The recently emerged severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) spread all over the world rapidly and caused a global pandemic. To prevent the virus from spreading to more individuals, it is of great importance to identify and isolate infected individuals through testing. Reverse transcription-quanti...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2020.12.011
更新日期：2021-01-09 00:00:00
abstract：:In the column chromatographic determination of Hb A1c, hemoglobin variants affect Hb A1c results and column patterns. Samples from several patients with hemoglobin variants were run on Bio-Rad Hb A1c columns to demonstrate these patterns. Columns should be examined during the run to detect the presence of Hb F which m...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80103-x
更新日期：1985-06-01 00:00:00
abstract：OBJECTIVES:Vitamin B(12), or B(12), is an essential nutrient for humans, and its deficiency is a public health problem, especially in elderly population. Around 30% of circulating total B(12) levels are attached to transcobalamin II (TCN2), being referred as holotranscobalamin (holo-TC), and representing the biological...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.01.015
更新日期：2010-05-01 00:00:00
abstract：OBJECTIVES:The International Federation of Clinical Chemistry (IFCC) initiated a pilot study, with cortisol as an example, that aims to implement the concept of standardization of hapten immunoprocedures on the basis of metrological traceability. In fact, this standardization concept comes down to correct calibration o...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(98)00037-x
更新日期：1998-08-01 00:00:00
abstract：OBJECTIVES:To investigate the association of parental hyperhomocysteinemia, C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism and DNA damage with recurrent pregnancy loss (RPL). DESIGN AND METHODS:A case-control study. Reverse phase HPLC, PCR-RFLP and Cytokinesis blocked micronuclei assay were used to as...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.12.003
更新日期：2009-03-01 00:00:00
abstract：OBJECTIVE:To evaluate the potential diagnostic value of apolipoprotein E (ApoE) measurements in pediatric patients with invasive bacterial infections. DESIGN AND METHOD:A total of 185 pediatric patients were enrolled in this study, including 94 patients with confirmable infections and 91 patients without confirmable i...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.11.009
更新日期：2012-02-01 00:00:00
abstract：:Liquid chromatography (LC) coupled to mass spectrometry (MS) or tandem mass spectrometry (MS/MS) is a well-established and widely used technique in clinical and forensic toxicology as well as doping control especially for quantitative analysis. In recent years, many applications for so-called multi-target screening an...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2016.07.010
更新日期：2016-09-01 00:00:00
abstract：OBJECTIVES:To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. DESIGN AND METHODS:We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Rea...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.03.140
更新日期：2011-07-01 00:00:00
abstract：OBJECTIVE:We examined the association of plasma apolipoprotein (apoB) B-48, remnant-like particle (RLP)-cholesterol and non-HDL cholesterol concentrations with apoB-100 kinetics in overweight-obese men. METHODS AND RESULTS:Very-low density lipoprotein (VLDL), intermediate-density lipoprotein (IDL) and low-density lipo...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.05.009
更新日期：2005-09-01 00:00:00
abstract：OBJECTIVE:To review biochemical literature and determine the significance of non-covalent bonding in plasma. RESULTS:Many non-covalent bonds exist in plasma. Relatively strong self-associations are found for serum albumin, several gamma-globulins, apolipoproteins and fibrin(ogen). Here, fibrinogen and fibrin, consider...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(96)00159-2
更新日期：1997-03-01 00:00:00
abstract：:The bromocresol purple (BCP) albumin method on the DuPont aca was evaluated by determining the accuracy and precision of the method. A split sample comparison was performed against the electroimmunoassay (EIA) method as well as the bromocresol green (BCG) method on the DuPont aca and the Technicon SMA 12/60. The BCP m...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(83)90490-3
更新日期：1983-04-01 00:00:00
abstract：OBJECTIVES:Patients with Ehlers-Danlos syndrome were described to contain reduced activities of beta4-galactosyltransferase-7 (beta4Gal-T7). Therefore, measurement of beta4Gal-T7 activity can help to characterize defects in proteoglycan biosynthesis in patients with connective tissue diseases. DESIGN AND METHODS:We de...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.12.009
更新日期：2009-04-01 00:00:00
abstract：OBJECTIVES:To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1). DESIGN AND METHODS:Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations,...
journal_title：Clinical biochemistry
pub_type： 杂志文章,多中心研究
doi：10.1016/j.clinbiochem.2008.01.018
更新日期：2008-05-01 00:00:00
abstract：OBJECTIVES:Oxidative stress plays a role in the pathogenesis in patients with HCV infection. The objective of this study was to evaluate oxidant and antioxidant biomarkers in patients with HCV. DESIGN AND METHODS:Serum malonaldehyde (MDA) and nitric oxide (NO) levels and the activities of myeloperoxidase (MPO), aryles...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.06.007
更新日期：2009-09-01 00:00:00
abstract：OBJECTIVE:The detection of possible correlation between ribosomal protein RPS27A and multifunctional YB-1 expression in hepatocellular carcinoma (HCC). DESIGN AND METHODS:Tissue microarray slides containing totally 80 cores with 19 tissues of HCC, 1 tissue of hepatocholangiocarcinoma, 10 tissues of liver cirrhosis and...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2014.05.004
更新日期：2014-09-01 00:00:00
abstract：OBJECTIVES:Receptor for advanced glycation end products (RAGE) plays a role in inflammatory reactions. Soluble RAGE (sRAGE) level is elevated in patients with acute respiratory distress syndrome (ARDS). However, which clinical parameters and inflammatory biomarkers including sRAGE are associated with death in ARDS pati...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.12.014
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVE:Saposin C (SAP-C) is an essential activator of glucosylceramide (GlcCer)-β-glucosidase (GCase), the enzyme deficient in Gaucher's disease. In this study, we investigated the effects of chemically synthesized SAP-Cs (synthetic SAP-Cs) on GCase. METHODS:Enzymatic assays and western blot analyses were carried o...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.06.004
更新日期：2015-11-01 00:00:00
abstract：BACKGROUND:Laboratory confirmation of alpha-1-antitrypsin (A1AT) deficiency may be achieved by multiple methods. Here, we compare the relative comprehensiveness and efficiency of pathogenic variant (PV) detection of four different protocols utilized at different diagnostic centres in Canada. METHODS:Diagnostic results...
journal_title：Clinical biochemistry
pub_type： 杂志文章,多中心研究
doi：10.1016/j.clinbiochem.2020.05.001
更新日期：2020-07-01 00:00:00
abstract：OBJECTIVES:We have previously identified three minor immunophilins of molecular weights 37 kDa, 14 kDa, and 5-8 kDa capable of binding tacrolimus and sirolimus. DESIGN AND METHODS:When tested against pure preparations of five sirolimus metabolites, the 14 kDa protein had almost no cross-reactivity, the 37 kDa protein ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(99)00080-6
更新日期：2000-02-01 00:00:00
abstract：OBJECTIVES:The relative proportion in percentage of the isoenzyme A of beta-hexosaminidase (Hex) is the single discriminatory function most frequently used for the biochemical screening of heterozygote Tay-Sachs disease carriers. It has been suggested that the assay of the Hex isoenzymes in homogeneous cell preparation...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.05.016
更新日期：2005-10-01 00:00:00
abstract：OBJECTIVES:To develop a method for the determination of succinylacetone (SA) in dried blood spots (DBS) using tandem mass spectrometry (MS/MS). METHODS:SA was extracted from DBS with an acetonitrile and water solution (80:20 by volume) containing formic acid and hydrazine hydrate (both at 0.1% by volume), and analyzed...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2004.07.006
更新日期：2004-11-01 00:00:00
abstract：OBJECTIVES:Concentrations of troponin measured with high sensitivity troponin assays are raised in a number of emergency department (ED) patients; however many are not diagnosed with acute myocardial infarction (AMI). Clinical comparisons between the early use (2h after presentation) of high sensitivity cardiac troponi...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.11.019
更新日期：2014-04-01 00:00:00
abstract：OBJECTIVES:We investigated the stability of 36 analytes related to clinical chemistry in a controlled storage study. DESIGN AND METHODS:Blood was collected from 11 subjects and was maintained for 45 min, 2.5 h, 5 h, or 24 h after phlebotomy before centrifugation. RESULTS:Statistically significant changes were observe...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.02.010
更新日期：2009-06-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to determine the adult reference values for cystatin C (CysC) and to evaluate their consistence with those reported in the literature. DESIGN AND METHODS:CysC was analyzed in a consecutive series of subjects (100 males and 100 females) by a nephelometric immunoassay. Medline was sea...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.05.011
更新日期：2007-09-01 00:00:00
abstract：OBJECTIVES:The aim of the study was to evaluate the concentration of interleukin 12 (IL-12), the activity of phospholipase A(2) (PLA(2)), and platelet-activating factor acetylhydrolase (PAF-AH) in type 1 diabetes (DM1) patients treated with intensive insulin therapy. DESIGN AND METHODS:Studied parameters were measured...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.07.023
更新日期：2009-11-01 00:00:00
abstract：BACKGROUND:With the advent of the new high-sensitivity troponin assays, it is becoming critical to measure troponin accurately to low concentrations. To ensure assay performance is acceptable, appropriate QC must be run. METHODS:In addition to the routine use of commercial QC material, we prepared pools of human QC ma...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2018.05.007
更新日期：2018-08-01 00:00:00
abstract：OBJECTIVES:The aim of our study was to assess the association of common sequence variants, and selected interactions, with HDL-c plasma levels. DESIGN AND METHODS:We analysed 743 individuals (340 men and 403 women) with high mean triglyceride and LDL-c levels. The association of five polymorphic sites (ABCA1 g.1051G>A...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.04.001
更新日期：2010-06-01 00:00:00
abstract：:We describe a simple direct extraction method for the gas-liquid chromatography determination of serum valproic acid. The working range for the assay is 2-180 mg/L and our within-run precision was 5.8 and 4.3% at the 40 and 90 mg/L concentrations respectively. Hemolyzed and lipemic sera as well as samples from patient...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(81)90772-4
更新日期：1981-04-01 00:00:00
abstract：OBJECTIVES:The aim of this study was to determine whether the atherogenic index of plasma (AIP=log[triglycerides/HDL-cholesterol]) differs in heterozygous familial hypercholesterolemia (FH) patients with and without a history of cardiovascular disease (CVD). DESIGN AND METHODS:A total of 555 FH patients with known mut...
journal_title：Clinical biochemistry
pub_type： 杂志文章,多中心研究
doi：10.1016/j.clinbiochem.2011.11.001
更新日期：2012-01-01 00:00:00
abstract：OBJECTIVES:In widely used protocols for the collection and isolation of cord blood mononuclear cells, investigators are left with substantial volumes of diluted plasma which could be used for other measurements. The aim of this study was to ascertain the validity of umbilical cord blood (UCB) diluted plasma samples for...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.04.014
更新日期：2015-11-01 00:00:00
