Abstract：
:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a recessively inherited defect in the mitochondrial beta-oxidation of fatty acids. A single nucleotide change, the A985 --> G transition, in the MCAD gene accounts for approximately 90% of all the disease-causing mutations in the patients. We have used PCR to amplify a segment of the human MCAD gene and typed the allelic sequence variation at base 985 by a colorimetric oligonucleotide ligation assay (OLA). PCR/OLA provides a technique that permits differentiation of the homozygotes, heterozygotes, and normals for the A985 --> G allele in the MCAD gene. Genotyping of 1908 random Finnish DNA samples by OLA identified 10 carriers of the mutant allele, but no homozygotes were found. The calculated carrier frequency for the A985 --> G mutation was 1:191 (95% confidence limits, 1:118-1:501), and the calculated frequency for the A985 --> G homozygotes was 1:147,000 (95% confidence limits, 1:56,000-1:1,004,000).
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Romppanen EL,Mononen T,Mononen Isubject
Has Abstractpub_date
1998-01-01 00:00:00pages
68-71issue
1eissn
0009-9147issn
1530-8561journal_volume
44pub_type
杂志文章abstract：:A new type of multilayer film analytical element--consisting of a spreading layer, a blocking layer, an enzymic reagent layer, and a transparent layer--has been developed for blood glucose determination. After a spot of whole blood is dropped on the film, the plasma glucose concentration is determined in 6 min without...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-07-01 00:00:00
abstract：BACKGROUND:The use of opioids to alleviate pain is complicated by the risk of severe adverse events and the large variability in dose requirements. Pharmacogenetics (PGx) could possibly be used to tailor pain medication based on an individual's genetic background. Many potential genetic markers have been described, and...
journal_title：Clinical chemistry
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abstract：BACKGROUND:For the past 30 years, the Sanger method has been the dominant approach and gold standard for DNA sequencing. The commercial launch of the first massively parallel pyrosequencing platform in 2005 ushered in the new era of high-throughput genomic analysis now referred to as next-generation sequencing (NGS). ...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2008.112789
更新日期：2009-04-01 00:00:00
abstract：:Backpropagation neural networks are a computer-based pattern-recognition method that has been applied to the interpretation of clinical data. Unlike rule-based pattern recognition, backpropagation networks learn by being repetitively trained with examples of the patterns to be differentiated. We describe and analyze t...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1993-09-01 00:00:00
abstract：BACKGROUND:Lysosomal storage disorders (LSDs) comprise more than 40 genetic diseases that result in the accumulation of products that would normally be degraded by lysosomal enzymes. A tandem mass spectrometry (MS/MS)-based method is available for newborn screening for 5 LSDs, and many laboratories are initiating pilot...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2008.111864
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abstract：:The ultraviolet fluorescence emission spectra of sera from apparently healthy persons and of sera from cancer patients frequently show significantly different curve shapes. A biparametric fluorescence method has been developed to use these deviations to detect patients with malignant diseases (Clin Chem 1986;32:1974-8...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-11-01 00:00:00
abstract：:An enzymatic, fluorometric method is described for determination of serum urea on silicone-rubber pads. In this method, the reagents are lyophilized on the surface of the pads, NADH on one side and a mixture of urease, glutamate dehydrogenase, and alpha-ketoglutarate on the other. The rate of disappearance of NADH flu...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
abstract：:The commonly used methods of assessing the precision of the automated leukocyte differential have certain drawbacks that affect the validity and comparability of results. In the present report, we introduce a procedure based on building precision profiles from a large number of within-run imprecision experiments. The ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
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journal_title：Clinical chemistry
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doi：10.1373/clinchem.2008.122572
更新日期：2009-09-01 00:00:00
abstract：BACKGROUND:Test repetition could be a readily modifiable component of laboratory utilization. Laboratory test repetition has not been rigorously studied at a population-based level. Our objective was to determine the prevalence of, and charges associated with, repetition of eight common laboratory tests. METHODS:We pe...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2003.021220
更新日期：2003-12-01 00:00:00
abstract：BACKGROUND:Recent reports have described inherent problems with androgen immunoassays compared with mass spectrometry analyses. METHODS:We developed a method for measuring serum testosterone (T) and 5alpha-dihydrotestosterone (DHT) simultaneously via liquid-liquid extraction followed by liquid chromatography-tandem ma...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2008.103846
更新日期：2008-11-01 00:00:00
abstract：:Comparison of two methods for determining a substance is a common procedure in clinical chemistry. Almost without exception, normal theory statistics are used with the tacit assumption that the data under test show gaussian distributions. Experience has led us to question this assumption for populations of differences...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-03-01 00:00:00
abstract：BACKGROUND:First introduced in 2006, recombinase polymerase amplification (RPA) has stirred great interest, as evidenced by 75 publications as of October 2015, with 56 of them just in the last 2 years. The widespread adoption of this isothermal molecular tool in many diagnostic fields represents an affordable (approxim...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2015.245829
更新日期：2016-07-01 00:00:00
abstract：BACKGROUND:In vitro and animal studies suggest that tumor necrosis factor alpha (TNF-alpha) modulates intestinal iron transport. We hypothesized that the effect of TNF-alpha might be particularly relevant if iron absorption is not effectively controlled by the HFE gene. METHODS:In patients with homozygous C282Y hemoch...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2005.065417
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:The alteration of the bone microenvironment as a consequence of skeletal metastases is poorly understood. The aim of this study was to search for patterns of bone markers in relation to primary tumor type, bone pain, and number of sites involved in patients with bone metastases. METHODS:We studied 323 patie...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-08-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-08-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2010.159830
更新日期：2011-05-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2007.091231
更新日期：2007-11-01 00:00:00
abstract：BACKGROUND:Diabetes mellitus has been historically divided into type 1 and type 2 diabetes, with type 1 being an autoimmune disease and type 2 being primarily a metabolic disease. CONTENT:The current diabetes classification scheme needs to be reevaluated because of the accumulating evidence of immune system involvemen...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2010.148270
更新日期：2011-02-01 00:00:00
abstract：:In this automated apoenzyme reactivation immunoassay system (Ames Optimate) for thyroxin-binding globulin (TBG), the sample and N6-aminohexylflavin adenine dinucleotide-labeled TBG react sequentially with antiserum. Then apoglucose oxidase is added to combine with the free fraction and generate glucose oxidase activit...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-05-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-09-01 00:00:00
abstract：:In this new radioimmunoassay system for determination of amatoxins in urine and plasma, a novel chemical approach is used for antigen and 125I-tracer production, based on a detoxified alpha-amanitin derivative (aldoamanitin). Total assay time, including data processing, is less than 100 min. The lowest detectable conc...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-09-01 00:00:00
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journal_title：Clinical chemistry
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-06-01 00:00:00
abstract：:We studied the relationship between serum erythropoietin (EPO) concentration and iron status in 67 patients undergoing chronic hemodialysis. Serum concentrations of EPO were measured by RIA with recombinant human EPO. The geometric mean of the serum EPO concentration was 10.9 int. units/L (mean +/- SD range = 7.8 - 15...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1992-02-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：1999-07-01 00:00:00
abstract：BACKGROUND:Quantitative PCR of viral nucleic acids can be useful clinically in diagnosis, risk assessment, and monitoring of antiviral therapy. We wished to develop a chemiluminescence competitive PCR (cPCR) for parvovirus B19. METHODS:Parvovirus DNA target sequences and competitor sequences were coamplified and direc...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1983-12-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1991-10-01 00:00:00
