Abstract：
OBJECTIVES:Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene. DESIGN AND METHODS:In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without GALT activity using PCR-RFLP and SSCP-Sequencing methods. RESULTS:Q188R mutation was the most observed mutation with the allelic frequency of 57.1%. The allelic frequencies for S135L, Y209S, A320T, and K285N were found to be 7.1%, 7.1%, 7.1%, and 3.57% respectively. CONCLUSIONS:Our results show that galactosemia is a heterogeneous disorder at the molecular level among the Iranian population.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Mirzajani F,Mirfakhraie R,Nabati F,Tabatabaei NN,Talachian E,Houshmand Mdoi
10.1016/j.clinbiochem.2006.04.020subject
Has Abstractpub_date
2006-07-01 00:00:00pages
697-9issue
7eissn
0009-9120issn
1873-2933pii
S0009-9120(06)00137-8journal_volume
39pub_type
杂志文章abstract：OBJECTIVES:To evaluate the association between plasma lipids and insulin and variation in the genes for apolipoproteins (APO) E (CfoI), B (insertion/deletion), C1 (HpaI), and C3 (C-482T, C3238G) in a population-based Czech Slavonic study. DESIGN AND METHODS:In 131 men and 154 women, polymorphisms were investigated usi...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(01)00184-9
更新日期：2001-03-01 00:00:00
abstract：OBJECTIVES:Recently it has been suggested that serum beta-N-acetylhexosaminidase (Hex) could be a joint destruction marker in rheumatoid arthritis (RA) patients. However, a large amount of serum Hex activity has its source from platelets, and the blood platelet-count is often increased in RA, which may have masked the ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(02)00339-9
更新日期：2002-09-01 00:00:00
abstract：:The paraoxonases (PON1, PON2 and PON3) are an enzyme family with a high structural homology. All of them have lactonase activity and degrade lipid peroxides in lipoproteins and cells. As such, they play a role in protection against oxidation and inflammation. Infectious diseases are often associated with oxidative str...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2017.04.016
更新日期：2017-09-01 00:00:00
abstract：OBJECTIVES:To investigate whether the STK15 mRNA expression correlates with clinicopathologic features and the prognosis of HCC patients. DESIGN AND METHODS:Three hepatoma cell lines, two normal liver epithelial cell lines, hepatoma tissues, adjacent tumor tissues and normal liver tissues were obtained from 46 HCC pat...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.01.023
更新日期：2009-05-01 00:00:00
abstract：OBJECTIVE:Mycophenolic acid requires routine therapeutic drug monitoring. We evaluated the suitability of a new PETINIA (particle enhanced turbidimetric inhibition immunoassay) assay on the Dimension EXL analyzer for monitoring of mycophenolic acid by comparing values obtained by this assay with a HPLC-UV method. DESI...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2012.11.025
更新日期：2013-05-01 00:00:00
abstract：OBJECTIVES:We checked the efficiency of a new dialysis device adapted to small volumes to remove glycerol from cryopreserved red blood cells. DESIGN AND METHODS:Dialysis was performed on D-Tube96™ Dialyzer Mini device. In a preliminary trial, we measured the residual glycerol before, and 2, 4 and 24 h after dialysis. ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.03.023
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVES:Although monitoring of cyclosporin (CsA) is standard clinical practice postrenal transplantation, mycophenolic acid (MPA) concentrations are not routinely measured. There is evidence that a relationship exists between MPA area under the concentration-time curve (AUC) and rejection. In this study, a retrospec...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00196-x
更新日期：2001-02-01 00:00:00
abstract：:Retrospective analysis of DNA from paraffin-embedded fixed bone marrow biopsy specimens is possible if preceded by amplification of the DNA sequences of interest by the polymerase chain reaction (PCR). These fixed specimens yield degraded DNA that may not be suitable for direct analysis by conventional digestion and h...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(92)80051-h
更新日期：1992-04-01 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: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：:Mycophenolate mofetil is widely used in combination with either cyclosporine or tacrolimus for rejection prophylaxis in renal and heart transplant patients. Although not monitored routinely nearly to the degree that other agents such as cyclosporine or tacrolimus, there is an expanding body of experimental evidence fo...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/s0009-9120(00)00184-3
更新日期：2001-02-01 00:00:00
abstract：:Immunoturbidimetric assays for specific proteins are available on "open system" clinical chemistry analyzers. The analytical performance of nine immunoturbidimetric specific protein assays (C3, C4, CRP, Haptoglobin, IgA, IgG, IgM, RF, and Transferrin) was compared to immunonephelometry. Testing was performed on the Ab...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.06.016
更新日期：2009-10-01 00:00:00
abstract：:The ES 300 system, a fully automated multichannel immunoassay analyzer, was evaluated simultaneously for 9 weeks in four major centers. Precision, accuracy, carryover, comparison to in-house methods, and interferences were assessed for the following 17 tests: T4, T3, FT4, TSH, TBK, TBG, LH, FSH, prolactin, HCG, digoxi...
journal_title：Clinical biochemistry
pub_type： 杂志文章,多中心研究
doi：10.1016/0009-9120(93)90017-z
更新日期：1993-02-01 00:00:00
abstract：AIMS:There is increasing interest in using fructosamine measurements in screening for or managing diabetes, yet uncertainty remains as to whether these measurements should be corrected for variation in serum protein concentrations. METHODS:We considered all sets of simultaneous measurements of fructosamine, albumin, t...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2016.10.014
更新日期：2017-02-01 00:00:00
abstract：OBJECTIVES:To evaluate platelet activating factor (PAF) levels, its metabolic enzymes activity and its associations with other inflammatory markers in heart failure (HF) patients. DESIGN AND METHODS:PAF, and two of its key biosynthetic enzymes [lyso-PAF acetyltransferase (lyso-PAF-AT) and DTT-insensitive CDP-choline:1...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.09.113
更新日期：2009-01-01 00:00:00
abstract：:Three commercially available assays (an enzyme-linked immunosorbent assay ELISA, an immunoradiometric assay, IRMA, and a nephelometric assay) for the determination of lipoprotein(a) [Lp(a)] were compared with respect to the dependency of these assays on the various apolipoprotein(a) [apo(a)] isoforms. Although there w...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(94)00052-w
更新日期：1994-12-01 00:00:00
abstract：OBJECTIVES:The aim of the study was to examine the long-term effect of commonly used whole soy foods (soy flour) and purified daidzein (one major isoflavone and the precursor of equol) on renal function among prehypertensive postmenopausal women who are also equol producers, a population most likely to benefit from soy...
journal_title：Clinical biochemistry
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.clinbiochem.2014.05.054
更新日期：2014-09-01 00:00:00
abstract：:Improving long-term management, life-quality and outcome of transplant recipients continues to be a challenge. The impact of highly chemoattractant proteins as chemokines on transplant outcome is undeniable. These immunoactive molecules are critical in a wide variety of physiological and pathological processes, such a...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2015.07.026
更新日期：2016-03-01 00:00:00
abstract：INTRODUCTION:The USA hCG Reference Service has been dealing with cases of persistent low levels of hCG and gestational trophoblastic diseases for 10years. Here we present the complete experience. METHODS:Total hCG in serum and urine was measured using the Siemen's Immulite 1000 assay. Hyperglycosylated hCG, nicked hCG...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.05.006
更新日期：2010-08-01 00:00:00
abstract：:Comparison of the turbidimetric immunoassay of haptoglobin with a reference method (the RID technique with appropriate correction for phenotype) clearly showed the turbidimetric assay to be phenotype-dependent. Correction factors for the three main phenotypes were calculated and reference values determined. The observ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(87)80006-1
更新日期：1987-08-01 00:00:00
abstract：:A simple and rapid method for serum sex hormone binding globulin (SHBG) was developed. Sera from pregnant women were pooled and the SHBG concentration was measured by Rosner's method. This pool was diluted with charcoal-treated and heated serum to give standards ranging in concentrations from 26.8-0.8 micrograms/L. Tw...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80031-x
更新日期：1985-10-01 00:00:00
abstract：:The purpose of this report is to evaluate whether a new, simple, non-invasive method for chymotrypsin measurement in stools is useful for the diagnosis of exocrine pancreatic insufficiency in cystic fibrosis (CF). A hundred children aged from 2 months to 12 years were tested: 50 children had been admitted for chronic ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80046-1
更新日期：1985-08-01 00:00:00
abstract：OBJECTIVES:To assess the relationship between lipoprotein (a) [Lp (a)] and lipoprotein oxidation in patients with coronary artery disease (CAD). DESIGN AND METHODS:Oxidation of apolipoprotein (apo)B-containing lipoproteins, vitamin E, carotenoids, lipid-lipoprotein levels were determined in 171 CAD and 70 non-CAD subj...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00079-5
更新日期：2000-06-01 00:00:00
abstract：:We report a case of metastatic adenocarcinoma of the prostate with widespread bony and hepatic involvement having extremely high BB isoenzyme of creatine kinase in serum (2405 U/liter). The serum LD5/LD1 ratio is greater than one, with total LD activity more than twenty-five fold the normal value. The homogenate of pr...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(80)90502-0
更新日期：1980-02-01 00:00:00
abstract：OBJECTIVE:Previous studies suggested that decreased serum vaspin levels were associated with coronary artery disease (CAD). The present study aimed to investigate the association between plasma vaspin levels and different states of CAD. DESIGN AND METHODS:A total of 162 patients with coronary angiography (CAG) proved ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.06.028
更新日期：2013-10-01 00:00:00
abstract：OBJECTIVE:We compared leukocyte counts obtained by cytometric analysis and Fuchs-Rosenthal (FR) chamber counting in different proportions of lymphocytes (Lym%) suspensions and cerebrospinal fluid (CSF). DESIGN AND METHODS:UF-100 (UF) was evaluated. For preparation of cell suspensions, gradient density centrifugation m...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.05.003
更新日期：2006-08-01 00:00:00
abstract：:Matrix metalloproteinases (MMPs) may play a pathophysiological role in the development of diabetic nephropathy (DN). We hypothesized that urinary MMP activity in patients with type 2 diabetes mellitus (T2DM) is related to a decline in renal function. We determined MMP-2, -8 and -9 activity in 24-h urine collections in...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.02.006
更新日期：2010-05-01 00:00:00
abstract：:Erythrocyte morphology, kinematic viscosity, and membrane lipid composition have not been well documented in heterozygous hypobetalipoproteinemia (HBL). In our study of nine subjects with HBL from two kindreds, three presented with schistocytes (3-6%) while two of them also showed acanthocytosis (25-35%) on their peri...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(88)80020-1
更新日期：1988-12-01 00:00:00
abstract：:A fluorescence polarization (FP) technique was applied to the assay of lysozyme activity in human urine. In this assay system, reaction between enzyme and fluorescein-labelled substrate produced a decrease in the fluorescein polarization (P) value. Enzyme activity and rate of decrease of P value exhibited a hyperbolic...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80022-9
更新日期：1985-02-01 00:00:00
abstract：:Plasma membrane-bound 5'-nucleotidase (5'-NT), gamma-glutamyltransferase (gamma-GT) and soluble deoxynucleotidyltransferase (TdT) were studied in peripheral blood cells (PBMN) of 35 individuals, 26 male and 9 female, with circulating anti-HIV antibodies. Twenty-six were drug abusers, 2 were drug abusers and homosexual...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(89)80026-8
更新日期：1989-08-01 00:00:00
