Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

abstract：BACKGROUND:direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or whole-gene deletions. Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal ...

journal_title：Clinical chemistry

authors： Wong LJ,Dimmock D,Geraghty MT,Quan R,Lichter-Konecki U,Wang J,Brundage EK,Scaglia F,Chinault AC

更新日期：2008-07-01 00:00:00

abstract：BACKGROUND:Cardiac troponins are associated with cardiovascular risk in the general population, but whether temporal changes in cardiac troponin I provide independent prognostic information remains uncertain. Using a large community-based cohort with follow-up close to the present day, we aimed to investigate the assoc...

journal_title：Clinical chemistry

authors： Lyngbakken MN,Røsjø H,Holmen OL,Dalen H,Hveem K,Omland T

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:ADB-PINACA and its 5-fluoropentyl analog 5F-ADB-PINACA are among the most potent synthetic cannabinoids tested to date, with several severe intoxication cases. ADB-PINACA and 5F-ADB-PINACA have a different legal status, depending on the country. Synthetic cannabinoid metabolites predominate in urine, making ...

journal_title：Clinical chemistry

authors： Carlier J,Diao X,Scheidweiler KB,Huestis MA

更新日期：2017-05-01 00:00:00

abstract：:A total of 1357 polypeptides [946 acidic (isoelectric focusing) and 411 basic (nonequilibrium pH-gradient electrophoresis)] from human HeLa cells have been separated and catalogued with use of high-resolution two-dimensional gel electrophoresis. Of these polypeptides, 1266 were detected by labeling cells with [35S]met...

journal_title：Clinical chemistry

authors： Bravo R,Celis JE

更新日期：1982-04-01 00:00:00

abstract：:In radioimmunoassay of digoxin by the dextran-coated charcoal method, duration of the incubation period for the antigen-antibody reaction and time allowed for dextran-coated charcoal to absorb the free antigen are critical factors. We compared effects of prolonged periods of absorption on results obtained with five co...

journal_title：Clinical chemistry

authors： Kuno-Sakai H,Sakai H

更新日期：1975-02-01 00:00:00

abstract：:Sensitive and specific radioimmunoassays of metanephrine and normetanephrine were developed by use of 125I-labeled synephrine and specific metanephrine antibody, and 125I-labeled octopamine and specific normetanephrine antibody. Specific antibody for both metanephrine and normetanephrine was raised in rabbits by immun...

journal_title：Clinical chemistry

authors： Iinuma K,Ikeda I,Ogihara T,Hashizume K,Kurata K,Kumahara Y

更新日期：1986-10-01 00:00:00

abstract：:Using a solid-phase monoclonal antibody enzyme immuno-assay, we evaluated in a multicenter study (18 laboratories) the utility of evaluating catalytic activity of human placental alkaline phosphatase (hPLAP, EC 3.1.3.1) in serum as a potential tumor marker. We determined hPLAP in serum samples from 130 patients with o...

journal_title：Clinical chemistry

authors： De Broe ME,Pollet DE

更新日期：1988-10-01 00:00:00

abstract：BACKGROUND:Several proteolytically derived fragments from the proline-rich region (PRR) of human inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) have been identified by surface-enhanced or matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF-MS or MALDI-TOF-MS) as potential diseas...

journal_title：Clinical chemistry

authors： Song J,Patel M,Rosenzweig CN,Chan-Li Y,Sokoll LJ,Fung ET,Choi-Miura NH,Goggins M,Chan DW,Zhang Z

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Multiplexed amplicon melting is a closed-tube method for genotyping that does not require probes, real-time analysis, asymmetric PCR, or allele-specific PCR; however, correct differentiation of homozygous mutant and wild-type samples by melting temperature (T(m)) analysis requires high-resolution melting ana...

journal_title：Clinical chemistry

authors： Seipp MT,Pattison D,Durtschi JD,Jama M,Voelkerding KV,Wittwer CT

更新日期：2008-01-01 00:00:00

abstract：BACKGROUND:This Case Conference reviews the normal changes in thyroid activity that occur during pregnancy and the proper use of laboratory tests for the diagnosis of thyroid dysfunction in the pregnant patient. CASE:A woman in the 18th week of pregnancy presented with tachycardia, increased blood pressure, severe vom...

journal_title：Clinical chemistry

authors： Fantz CR,Dagogo-Jack S,Ladenson JH,Gronowski AM

更新日期：1999-12-01 00:00:00

abstract：:We compared a chemiluminescent assay and a colorimetric endpoint assay for measuring an alkaline phosphatase (EC 3.1.3.1) label in an enzyme immunoassay of thyrotropin (TSH). The substrate in the chemiluminescent assay is a derivative of adamantyl 1,2-dioxetane phosphate. On dephosphorylation, catalyzed by alkaline ph...

journal_title：Clinical chemistry

authors： Bronstein I,Voyta JC,Thorpe GH,Kricka LJ,Armstrong G

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:False-positive results are a common problem in real-time PCR identification of DNA sequences that differ from near neighbors by a single-nucleotide polymorphism (SNP) or deletion. Because of a lack of sufficient probe specificity, post-PCR analysis, such as a melting curve, is often required for mutation dif...

journal_title：Clinical chemistry

authors： Satterfield BC,Kulesh DA,Norwood DA,Wasieloski LP Jr,Caplan MR,West JA

更新日期：2007-12-01 00:00:00

abstract：:A method is described for separating antibody-bound from free fractions in ligand assays by column affinity chromatography, and its application to radioimmunoassay of choriomammotropin. In the method, 70 x 10 mm (i.d.) polypropylene columns containing about 150 mg of immunosorbent (goat anti-rabbit gamma-globulins cov...

journal_title：Clinical chemistry

authors： Cornale P,Bonazzi M,Multinu C,Romelli P,Vancheri L,Pennisi F

更新日期：1981-06-01 00:00:00

abstract：INTRODUCTION:Pro or precursor forms of prostate-specific antigen (PSA) have emerged as potentially important diagnostic serum markers for prostate cancer detection. Immunoassays were developed to measure specific proPSA forms containing propeptides of 2, 4, and 7 amino acids [(-2)proPSA, (-4)proPSA, and (-7)proPSA, res...

journal_title：Clinical chemistry

authors： Mikolajczyk SD,Catalona WJ,Evans CL,Linton HJ,Millar LS,Marker KM,Katir D,Amirkhan A,Rittenhouse HG

更新日期：2004-06-01 00:00:00

abstract：BACKGROUND:Recent recognition of its broad pathophysiological importance has triggered an increased interest in 25-hydroxyvitamin D [25(OH)D]. By consequence, throughput in 25(OH)D testing has become an issue for clinical laboratories, and several automated assays for measurement of 25(OH)D are now available. The aim o...

journal_title：Clinical chemistry

authors： Heijboer AC,Blankenstein MA,Kema IP,Buijs MM

更新日期：2012-03-01 00:00:00

abstract：:We describe a rapid and simple insulin RIA in which proinsulin and conversion intermediates do not interfere. Three monoclonal antibodies (S1, S2, and S53) were selected for their specificity (directed, respectively, against the B10 region, the junction between A chain and C-peptide, and the junction between B chain a...

journal_title：Clinical chemistry

authors： Deberg M,Houssa P,Frank BH,Sodoyez-Goffaux F,Sodoyez JC

更新日期：1998-07-01 00:00:00

abstract：:We report a continuous-flow fluorometric method for total urinary estrogens that involves the Kober reaction, with extraction of the reaction product into dichloroethane containing trichloroacetic acid as described by Hahnel and Jones [Clin. Chim. Acta 16, 185 (1967)]. The dichloroethane extraction gives greater stabi...

journal_title：Clinical chemistry

authors： Frye R,Fong PF,Johnson GF,Rock RC

更新日期：1977-10-01 00:00:00

abstract：BACKGROUND:Current noninvasive assays for urothelial carcinoma (UC) lack clinical sensitivity and specificity. Given the utility of plasma cell-free DNA (cfDNA) biomarkers, the development of urinary cfDNA biomarkers may improve the diagnostic sensitivity. METHODS:We assessed copy number alterations (CNAs) by shallow ...

journal_title：Clinical chemistry

authors： Ge G,Peng D,Guan B,Zhou Y,Gong Y,Shi Y,Hao X,Xu Z,Qi J,Lu H,Zhang X,Zhan Y,Li Y,Wu Y,Ding G,Shen Q,He Q,Li X,Zhou L,Ci W

更新日期：2020-01-01 00:00:00

abstract：:We evaluated a new discrete analyzer, the Hitachi 705. The instrument can process sequentially as many as 19 different enzymes or other analytes, with a throughput of 180 tests per hour. We evaluated the spectrophotometer, the sample and reagent probes, and the performance for 11 assays: creatine kinase, aspartate ami...

journal_title：Clinical chemistry

authors： Douville P,Forest JC

更新日期：1983-04-01 00:00:00

abstract：BACKGROUND:The short half-life of the alpha-class glutathione S-transferases (GSTAs) in plasma combined with their even distribution throughout the liver lobule suggests that they may be useful complements to the more traditionally used liver markers. However, the currently available assays for measuring GSTAs in biolo...

journal_title：Clinical chemistry

authors： Dajani LK,Paus E,Warren DJ

更新日期：2001-05-01 00:00:00

abstract：:Erythrocyte protoporphyrin content is increased in several human and veterinary disorders in which heme synthesis is disrupted. The nature of the defect determines whether zinc protoporphyrin, unchelated (free) protoporphyrin, or both are present in the erythrocytes. Extraction of the protoporphyrin into acetone/water...

journal_title：Clinical chemistry

authors： Hart D,Piomelli S

更新日期：1981-02-01 00:00:00

abstract：:This assay was developed to measure apolipoprotein (apo) B in blood samples spotted onto filter paper. The long-term aim is to detect young families with the dominantly inherited familial hypercholesterolemia, during current neonatal screening programs. The interassay CV was 5.6%, and apo B concentrations correlated c...

journal_title：Clinical chemistry

authors： Wang XL,Dudman NP,Wilcken DE

更新日期：1989-06-01 00:00:00

abstract：BACKGROUND:A sensitive gas chromatography-negative ion chemical ionization mass spectrometry (GC/MS-NICI) method was developed and validated for the measurement of Delta(9)-tetrahydrocannabinol (THC) in human sweat patches. METHODS:THC-d(0) and THC-d(3) were added to worn blank sweat patches (PharmChek; PharmChem Inco...

journal_title：Clinical chemistry

authors： Saito T,Wtsadik A,Scheidweiler KB,Fortner N,Takeichi S,Huestis MA

更新日期：2004-11-01 00:00:00

abstract：:We established the validity of a quantitative reverse transcription (RT)-PCR assay for the RNA component of human telomerase (hTR), using the TaqMan fluorogenic detection system. Using this assay, we quantified hTR expression in two human pancreatic cancer cell lines, ASPC-1 and MIAPaCa-2. Our results indicated that h...

journal_title：Clinical chemistry

authors： Yajima T,Yagihashi A,Kameshima H,Kobayashi D,Furuya D,Hirata K,Watanabe N

更新日期：1998-12-01 00:00:00

abstract：:Alanine aminotransferase activity in serum increases significantly when serum is incubated with pyridoxal phosphate. The increase depends on the L-alanine concentration in the final assay mixture, being greatest at 800 mmol/liter. Preincubation of 22 normal sera, in a 10:1 ratio with an 8.09 mmol/liter pyridoxal phosp...

journal_title：Clinical chemistry

authors： Lustig V

更新日期：1977-02-01 00:00:00

abstract：:A two-site assay was developed by use of the "dissociation and enhancement lanthanide fluoroimmunoassay" (DELFIA) technique for determination of salmon calcitonin (SCT) in serum after administration to osteoporotic patients. Polyclonal antibodies were produced in rabbits immunized with SCT coupled to ovalbumin. After ...

journal_title：Clinical chemistry

authors： Rong H,Tørring O,Sääf M,Sjöstedt U,Sjöberg HE,Bucht E

更新日期：1994-09-01 00:00:00

abstract：:A one-stage semiautomated method for estimating total phospholipids in plasma is reported. The phospholipids are extracted into aqueous ethanol, combined with a Lewis acid, and the change in pH is monitored colorimetrically. The method, compared with the acid digestion method of Gomori [J. Lab. Clin. Med. 27, 955 (194...

journal_title：Clinical chemistry

authors： Wootton DG

更新日期：1977-09-01 00:00:00

abstract：:A direct mehtod [Clin. Chim. Acta 46, 113 (1973)] for determination of inorganic phosphate in serum was adapted for use with a centrifugal analyzer. Contamination is minimized and analysis rate maximized by doing the reaction in the reagent wells of the transfer disc and by utilizing the high-speed spectrophotometric ...

journal_title：Clinical chemistry

authors： Wentz PW,Savory J,Cross RE

更新日期：1976-02-01 00:00:00

abstract：BACKGROUND:Cross-sectional studies have reported seasonal variation in high-sensitivity C-reactive protein (hsCRP). However, longitudinal data are lacking. METHODS:We collected data on diet, physical activity, psychosocial factors, physiology, and anthropometric measurements from 534 healthy adults (mean age 48 years,...

journal_title：Clinical chemistry

authors： Chiriboga DE,Ma Y,Li W,Stanek EJ 3rd,Hébert JR,Merriam PA,Rawson ES,Ockene IS

更新日期：2009-02-01 00:00:00

abstract：BACKGROUND:There are 45 known genetic diseases that impair the lysosomal degradation of macromolecules. The loss of a single lysosomal hydrolase leads to the accumulation of its undegraded substrates in tissues and increases of related glycoconjugates in urine, some of which can be detected by screening of free oligosa...

journal_title：Clinical chemistry

authors： Xia B,Asif G,Arthur L,Pervaiz MA,Li X,Liu R,Cummings RD,He M

更新日期：2013-09-01 00:00:00