The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.


OBJECTIVES:Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 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.


Clin Biochem


Clinical biochemistry


Mirzajani F,Mirfakhraie R,Nabati F,Tabatabaei NN,Talachian E,Houshmand M




Has Abstract


2006-07-01 00:00:00














  • Genetic determination of plasma lipids and insulin in the Czech population.

    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


    authors: Hubacek JA,Waterworth DM,Poledne R,Pitha J,Skodová Z,Humphries SE,Talmud PJ

    更新日期:2001-03-01 00:00:00

  • Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.

    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


    authors: Casal JA,Mera A,Pérez LF,Tutor JC

    更新日期:2002-09-01 00:00:00

  • Paraoxonases and infectious diseases.

    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


    authors: Camps J,Iftimie S,García-Heredia A,Castro A,Joven J

    更新日期:2017-09-01 00:00:00

  • Expression of STK15 mRNA in hepatocellular carcinoma and its prognostic significance.

    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


    authors: Wang R,Wang JH,Chu XY,Geng HC,Chen LB

    更新日期:2009-05-01 00:00:00

  • Comparison of mycophenolic acid concentrations determined by a new PETINIA assay on the dimension EXL analyzer and a HPLC-UV method.

    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


    authors: Dasgupta A,Tso G,Chow L

    更新日期:2013-05-01 00:00:00

  • Usefulness of a new dialysis device adapted to small volume of red blood cells and its interest in epidemiology.

    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


    authors: Zerimech F,Huyvaert H,Matran R,Nadif R

    更新日期:2011-06-01 00:00:00

  • A retrospective analysis of mycophenolic acid and cyclosporin concentrations with acute rejection in renal transplant recipients.

    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


    authors: Pillans PI,Rigby RJ,Kubler P,Willis C,Salm P,Tett SE,Taylor PJ

    更新日期:2001-02-01 00:00:00

  • Amplification of intermediate-size DNA sequences from formalin and B-5 fixed tissue by polymerase chain reaction.

    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


    authors: Crisan D,Mattson JC

    更新日期:1992-04-01 00:00:00

  • Beta-hexosaminidase isoenzyme profiles in serum, plasma, platelets and mononuclear, polymorphonuclear and unfractionated total leukocytes.

    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


    authors: Casal JA,Cano E,Tutor JC

    更新日期:2005-10-01 00:00:00

  • Stability of analytes related to clinical chemistry and bone metabolism in blood specimens after delayed processing.

    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


    authors: Zwart SR,Wolf M,Rogers A,Rodgers S,Gillman PL,Hitchcox K,Ericson KL,Smith SM

    更新日期:2009-06-01 00:00:00

  • Pharmacokinetic, pharmacodynamic, and outcome investigations as the basis for mycophenolic acid therapeutic drug monitoring in renal and heart transplant patients.

    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


    authors: Shaw LM,Korecka M,DeNofrio D,Brayman KL

    更新日期:2001-02-01 00:00:00

  • Comparison of immunoturbidimetric and immunonephelometric assays for specific proteins.

    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


    authors: Mali B,Armbruster D,Serediak E,Ottenbreit T

    更新日期:2009-10-01 00:00:00

  • A multicenter evaluation of the Boehringer Mannheim ES 300 immunoassay system.

    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


    authors: D'Costa M,Feld R,Laxdal V,Trundle D,Collinsworth WL

    更新日期:1993-02-01 00:00:00

  • Corrected Fructosamine improves both correlation with HbA1C and diagnostic performance.

    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


    authors: Rodríguez-Segade S,Rodríguez J,Camiña F

    更新日期:2017-02-01 00:00:00

  • Platelet activating factor (PAF) and activity of its biosynthetic and catabolic enzymes in blood and leukocytes of male patients with newly diagnosed heart failure.

    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


    authors: Detopoulou P,Nomikos T,Fragopoulou E,Antonopoulou S,Kotroyiannis I,Vassiliadou C,Panagiotakos DB,Chrysohoou C,Pitsavos C,Stefanadis C

    更新日期:2009-01-01 00:00:00

  • Influence of apolipoprotein(a) phenotype on lipoprotein(a) quantification: evaluation of three methods.

    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


    authors: Leus FR,Leerink CB,Prins J,van Rijn HJ

    更新日期:1994-12-01 00:00:00

  • Effect of whole soy and purified isoflavone daidzein on renal function--a 6-month randomized controlled trial in equol-producing postmenopausal women with prehypertension.

    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


    authors: Liu ZM,Ho SC,Chen YM,Tang N,Woo J

    更新日期:2014-09-01 00:00:00

  • Chemokines and transplant outcome.

    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


    authors: Crescioli C

    更新日期:2016-03-01 00:00:00

  • USA hCG reference service, 10-year report.

    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


    authors: Cole LA,Laidler LL,Muller CY

    更新日期:2010-08-01 00:00:00

  • Is the turbidimetric immunoassay of haptoglobin phenotype-dependent?

    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


    authors: van Rijn HJ,van der Wilt W,Stroes JW,Schrijver J

    更新日期:1987-08-01 00:00:00

  • A method for the determination of sex hormone binding globulin in human serum.

    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


    authors: Zachariah NY,Thornblom RV,Chakmakjian ZH,Sumner GG

    更新日期:1985-10-01 00:00:00

  • Fecal chymotrypsin: a new diagnostic test for exocrine pancreatic insufficiency in children with cystic fibrosis.

    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


    authors: Scotta MS,Marzani MD,Maggiore G,De Giacomo C,Melzi D'Eril GV,Moratti R

    更新日期:1985-08-01 00:00:00

  • Relation between lipoprotein (a) and in vitro oxidation of apolipoprotein B-containing lipoproteins.

    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


    authors: Serdar Z,Sarandöl E,Dirican M,Yeşilbursa D,Serdar A,Tokullugil A

    更新日期:2000-06-01 00:00:00

  • Unusually high creatine kinase BB isoenzyme and study of lactate dehydrogenase pattern in metastatic adenocarcinoma of the prostate.

    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


    authors: Sandhu RS,Conover RE

    更新日期:1980-02-01 00:00:00

  • Plasma vaspin concentrations are decreased in acute coronary syndrome, but unchanged in patients without coronary lesions.

    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


    authors: Zhang B,Peng W,Li H,Lu Y,Zhuang J,Wang K,Su Y,Xu Y

    更新日期:2013-10-01 00:00:00

  • Urine flow cytometer quantification of leukocytes in samples containing a large proportion of lymphocytes.

    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


    authors: Yamanishi H,Imai N,Ohmine T,Nishiyama M,Suehisa E,Kanakura Y,Iwatani Y

    更新日期:2006-08-01 00:00:00

  • Urinary matrix metalloproteinase-8 and -9 activities in type 2 diabetic subjects: A marker of incipient diabetic nephropathy?

    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


    authors: van der Zijl NJ,Hanemaaijer R,Tushuizen ME,Schindhelm RK,Boerop J,Rustemeijer C,Bilo HJ,Verheijen JH,Diamant M

    更新日期:2010-05-01 00:00:00

  • Plasma and erythrocyte lipids in two families with heterozygous hypobetalipoproteinemia.

    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


    authors: Gheeraert P,De Buyzere M,Delanghe J,De Scheerder I,Bury J,Rosseneu M

    更新日期:1988-12-01 00:00:00

  • Application of fluorescence polarization to the determination of urinary lysozyme activity.

    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


    authors: Miura H

    更新日期:1985-02-01 00:00:00

  • Enzymatic imbalance in peripheral blood mononuclear cells isolated from individuals with anti-HIV antibodies.

    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


    authors: Losa GA

    更新日期:1989-08-01 00:00:00