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：:Proteomics, the analysis of expressed proteins, has been an important developing area of research for the past two decades [Anderson, NG, Anderson, NL. Twenty years of two-dimensional electrophoresis: past, present and future. Electrophoresis 1996;17:443-453]. Advances in technology have led to a rapid increase in app...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2004.09.002
更新日期：2004-11-01 00:00:00
abstract：OBJECTIVES:Osteoprotegerin (OPG) is a regulator of bone and vascular homeostasis and acts as a decoy receptor for proapoptotic TNF-related apoptosis-inducing ligand (TRAIL). DESIGN AND METHODS:We assessed pericardial and serum levels of OPG and TRAIL in pericardial effusions (PE) of malignant (mPE, n=24) or non-malign...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.12.003
更新日期：2012-02-01 00:00:00
abstract：OBJECTIVES:To develop a tandem mass spectrometry (MS/MS) method for plasma free and total carnitine, incorporating acid hydrolysis for total carnitine measurement, for improved accuracy and sample throughput. DESIGN AND METHODS:Limit of detection (LOD), limit of quantitation (LOQ), linearity, accuracy, precision coeff...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.08.015
更新日期：2010-11-01 00:00:00
abstract：OBJECTIVE:In this study, we determined the assay performance criteria necessary to produce acceptable results for >or=98% of neonate bilirubin samples collected by capillary heel-stick. STUDY DESIGN AND METHODS:We determined serum free hemoglobin levels in 151 heel-stick serum samples to determine the hemolysis level....
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.08.003
更新日期：2007-11-01 00:00:00
abstract：OBJECTIVE:This study was conducted to investigate the potential role of intravascular oxidative stress in inexplicable episodes of coronary artery spasm (CAS) during coronary angiography (CAG). DESIGN AND METHODS:Serial patients with stable angina scheduled for routine CAG were prospectively evaluated. Patients with c...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.01.021
更新日期：2009-05-01 00:00:00
abstract：OBJECTIVES:Studies from both experimental animals and humans suggest that administration of exogenous DHEA may have beneficial endocrine-metabolic, immunologic and neurologic effects. Several groups have administered DHEA to humans, but to the best of our knowledge, no one at this point has published a summary of the r...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(99)00021-1
更新日期：1999-07-01 00:00:00
abstract：BACKGROUND:Determination of metanephrine (MN), normetanephrine (NMN), and 3-methoxytyramine (3-MT) in saliva may offer potential diagnostic advantages in diagnosing pheochromocytoma. METHODS:In this preliminary study, we determined metanephrine concentrations in saliva of healthy subjects and the relationship with sim...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2016.02.003
更新日期：2016-09-01 00:00:00
abstract：:Epidemiological evidence suggests that the ratio HDL-cholesterol (HDL-C)/total cholesterol (TC) or apolipoprotein A1 (apo A1)/apolipoprotein B (apo B) are good indicators of coronary heart disease risk. In investigating the distribution of these ratios in the typical population served by our routine laboratory, we ana...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(92)80004-z
更新日期：1992-10-01 00:00:00
abstract：:1. When a malignant growth is developing in a patient, one often observes in the serum an increased activity of serum enzymes due to necrosis and increased membrane permeability caused by the altered metabolism of malignant cells. Conversely, I considered it interesting to check the enzymes of the malate-aspartate sh...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(77)92378-5
更新日期：1977-08-01 00:00:00
abstract：:The initial step in the action of thyrotropin (TSH) is its binding to the TSH receptor. TSH receptor antibodies are detected in up to 90% of patients with Graves' disease. Serial measurements of TSH receptor antibodies in patients with Graves' hyperthyroidism are helpful in predicting relapse. The TSH receptor was pur...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(90)90417-s
更新日期：1990-02-01 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
abstract：BACKGROUND:Cystinosis is a rare autosomal recessive disorder characterized by an accumulation of intralysosomal cystine due to a defect in cystine transport across the lysosomal membrane. This disorder can be treated specifically using high doses of cysteamine. Accurate measurement of intracellular cystine content is n...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.02.005
更新日期：2007-06-01 00:00:00
abstract：OBJECTIVES:In the process of obtaining a driver's license, a healthy 28year old man presented increased levels of disialo-transferrin (TF) (approx. 20%, ref. value<2) by HPLC analysis of TF isoforms (%CDT), while other markers of excessive alcohol consumption (PEth, MCV and γ-GT) were in the normal range. The objective...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.12.001
更新日期：2016-04-01 00:00:00
abstract：OBJECTIVES:We aimed to investigate the association between methylenetetrahydrofolate reductase (MTHFR) C677T and endothelial nitric oxide synthase (eNOS) G894T polymorphisms with lipid peroxidation, total antioxidant capacity (TAC) and the risk of preeclampsia in preeclamptic women. DESIGN AND METHODS:We screened a sa...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2012.10.020
更新日期：2013-01-01 00:00:00
abstract：BACKGROUND AND AIM:TGF-β1 has been previously reported to be involved in the pathogenesis of atherosclerosis. The aim of the present study was to assess whether functional gene polymorphisms of TGF-β1 and its key receptor TGF-β receptor type II (TGFBR2) contribute as risk factors to the onset and severity of atheroscle...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2016.05.022
更新日期：2016-08-01 00:00:00
abstract：:1. A CK(BB) fraction was observed in sera of a patient with prostatic carcinoma. The fraction accounted for 59% of the total enzyme activity. A metastatic tumor of a prostatic carcinoma was observed to contain solely the CK(BB) isozyme. An embryonal testicular carcinoma was observed to have a higher percentage of the ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(78)90641-0
更新日期：1978-04-01 00:00:00
abstract：OBJECTIVES:The current study aimed at the rapid identification of the copy number of α-globin genes for the diagnosis of α-thalassemia. DESIGN AND METHODS:To identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with th...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2012.02.006
更新日期：2012-07-01 00:00:00
abstract：OBJECTIVES:We have comparatively evaluated respiratory burst and some steps of its signaling in human granulocytes towards different stimuli. MATERIALS AND METHODS:An alternative method to remove erythrocytes by dextran differential sedimentation was employed. Respiratory burst (RB) was assessed in a flow cytometer by...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.10.005
更新日期：2006-01-01 00:00:00
abstract：OBJECTIVE:The aim of our research is to determine whether the time of blood sampling and fasting of patients have an impact on TSH values. DESIGN AND METHODS:A total of 198 participants were enrolled in this study and classified into five groups: A--the first sample collection for TSH measurement was taken between 7:0...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.08.020
更新日期：2015-12-01 00:00:00
abstract：OBJECTIVES:Glycosylation analysis provides many opportunities for diagnostics, but its complexity hampers its routine application. Aiming to alleviate this problem, we developed a simple assay that can measure sialylation of transferrin directly from serum. DESIGN AND METHODS:Transferrin samples with different levels ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.01.010
更新日期：2007-06-01 00:00:00
abstract：OBJECTIVES:Prostate specific antigen (PSA) is a widely used and clinically valuable marker for prostate disease. In order to enable the development of new PSA assays and progress the understanding of the biology of PSA we have analyzed PSA in seminal plasma. DESIGN AND METHODS:PSA in seminal plasma from men attending ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.11.018
更新日期：2012-03-01 00:00:00
abstract：:Immunoglobulin levels are elevated in the acquired immune deficiency syndrome (AIDS) and one class, IgA, has been suggested as a marker of disease progression. IgA is composed of two subclasses, IgA1 and IgA2; circulating IgA1 is roughly 85% of the total in healthy individuals. We have attempted to determine if the su...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(91)80020-4
更新日期：1991-06-01 00:00:00
abstract：OBJECTIVES:Newly presented solid-phase extraction methods (Solid Phase Disc Extraction, SPEC-Plus, Multi-Modal, and Solid Phase Micro Extraction, SPME have been checked with respect to their applicability to clinical toxicological analysis. In comparison with conventional liquid/liquid-extraction and a common mixed-pha...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(96)00096-3
更新日期：1996-12-01 00:00:00
abstract：OBJECTIVES:To evaluate whether caspases are involved in ethanol (EtOH)-induced apoptosis and if polyenylphosphatidylcholine (PPC) affects apoptosis, in vitro in Hep G2 cells. METHODS:Cells were treated with 100 mmol/L EtOH for 24 h and with 2 doses of 100 mmol/L EtOH (1/24 h) in the presence of absence of 20 mmol/L of...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(01)00218-1
更新日期：2001-05-01 00:00:00
abstract：BACKGROUND:Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and on reference ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.03.007
更新日期：2015-06-01 00:00:00
abstract：OBJECTIVES:To compare a fully automated immunoassay and a fully automated HPLC method for the quantification of HbA1c. DESIGN AND METHODS:For an inter-method comparison, 200 consecutive clinical samples were analyzed. Imprecision was studied with pooled whole blood. RESULTS:Very close agreement of results (identical ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.08.084
更新日期：2008-11-01 00:00:00
abstract：:The solid-phase radioimmunoassay procedures for serum digoxin and cortisol with the Concept-4 were evaluated for specificity, correlation with other radioimmunoassay procedures, parallelism, recovery, carryover, and precision. 1. The detection limits of the digoxin and cortisol assays were 10 pg/tube and 40 pg/tube, r...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(79)80136-8
更新日期：1979-08-01 00:00:00
abstract：OBJECTIVES:Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene ...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2009.07.014
更新日期：2009-12-01 00:00:00
abstract：:Only recently has radioimmunoassay been used for the detection of drugs of abuse in body fluids. The radioimmunoassay method is rapid, sensitive, specific, and can be performed with a minimum of sample, while conventional assay methods are time-consuming, relatively insensitive, and require a larger sample volume. Per...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(78)90098-x
更新日期：1978-06-01 00:00:00
abstract：OBJECTIVES:In a study by Couto et al. (Use of an algorithm applied to urine drug screening to assess adherence to an oxycontin regimen. J Opioid Manag 2009;5:359-64), adjusted urine measurements of oxycodone plus metabolites noroxycodone and oxymorphone were determined among volunteer subjects in three groups according...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2012.09.016
更新日期：2013-01-01 00:00:00
