Abstract：
:Some inherited metabolic disorders (IMDs) can cause significant complications during pregnancy, affecting the mother and/or the fetus. Although it appears that only a minority of IMDs have these effects, experience is still being acquired. For some disorders, patients will not have reached child-bearing age. Pregnancies in this group of patients will increase as the management of IMDs in childhood and adolescence improves. Clinicians should be aware of potential complications and consider carefully how best to manage these conditions. Ideally, patients should be followed up in adult life by a specialized clinical team, which can implement a planned approach to conception and pregnancy, but often this is not possible. For disorders where the risk of complications is well established (e.g. phenyl-ketonuria), optimal treatment may lead to a good fetal and maternal outcome. It is important also to consider the possibility of an IMD being present in fetuses of pregnancies that are affected by non-immune hydrops, maternal HELLP syndrome (haemolysis, elevated liver enzymes and low platelets) or acute fatty liver of pregnancy.
journal_name
Ann Clin Biochemjournal_title
Annals of clinical biochemistryauthors
Preece MA,Green Adoi
10.1258/000456302320314458subject
Has Abstractpub_date
2002-09-01 00:00:00pages
444-55issue
Pt 5eissn
0004-5632issn
1758-1001journal_volume
39pub_type
杂志文章,评审abstract：:We evaluated a novel assay for the measurement of 1,25 dihydroxyvitamin D (1,25 (OH)2D). Immunoextraction of 1,25(OH)2D is performed using a mini column containing a solid-phase monoclonal antibody followed by radioimmunoassay (RIA) using an 125I-labelled 1,25(OH)2D derivative tracer and Sac-cell separation. The mean ...
journal_title：Annals of clinical biochemistry
pub_type： 临床试验,杂志文章
doi：10.1177/000456329703400606
更新日期：1997-11-01 00:00:00
abstract：BACKGROUND:About 10 years ago, a survey showed significant deficiencies in the quality of gastrointestinal investigations performed by UK laboratories. Subsequently, several clinical guidelines have been developed and external quality assessment schemes introduced. This survey was performed to assess whether earlier de...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/000456307780117911
更新日期：2007-03-01 00:00:00
abstract：BACKGROUND:Supported liquid extraction (SLE) techniques are relatively new compared to other sample preparation approaches such as solid phase extraction (SPE), liquid-liquid extraction (LLE) and protein precipitation (PPE). We investigated the use of SLE as an alternative to SPE for the liquid chromatography tandem ma...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/0004563213480758
更新日期：2013-09-01 00:00:00
abstract：:Adverse reactions to foods may arise by a variety of mechanisms, both immune (IgE and non-IgE) and non-immune mediated. This article considers those assays useful in the diagnosis of Type 1 hypersensitivity to foods (IgE-based) and, importantly, discusses those assays where evidence is lacking for their use. In all ca...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1258/acb.2011.011011
更新日期：2011-07-01 00:00:00
abstract：:A method is described for the assessment of the fraction of microcytes from the red blood cell (RBC) size distribution histogram. For quantification of the fraction of microcytes an upper threshold corresponding with a RBC volume of 70 fL is established. The reference interval for the fraction of microcytes covers a r...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328802500615
更新日期：1988-11-01 00:00:00
abstract：:Most thyroid-stimulating hormone (TSH) assays now have the sensitivity required by thyroid guidelines and allow the reliable identification of patients with both overt and subclinical hyperthyroidism. Clinical guidelines usually quote decision limits for TSH, but often ignore the issue of whether variability in bias b...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/000456307780480945
更新日期：2007-05-01 00:00:00
abstract：:This paper describes some factors to which attention should be paid when atrial natriuretic peptide (ANP) values are to be interpreted. Changing from the supine to the sitting position decreased ANP levels, while no further decrease was observed when the upright position was assumed. On the other hand, plasma renin ac...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328902600604
更新日期：1989-11-01 00:00:00
abstract：:The activity of serum deoxycytidylate deaminase, not hitherto reported to increase after myocardial infarction, has been investigated and the results have been related to other cardiac enzymes, including the MB fraction of creatine phosphokinase. Deoxycytidylate deaminase was found to increase to maximum activity on t...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456327801500175
更新日期：1978-11-01 00:00:00
abstract：:An automated assay for serum amylase is described. Using the AutoAnalyzer II the method employs, as substrate, a solution of dyed amylopectin which is commercially available (DyAmyl-L). After incubation of serum and substrate at 55 degrees C, 1.0 mol/lKOH is introduced and the coloured products of enzymic hydrolysis a...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456327701400190
更新日期：1977-11-01 00:00:00
abstract：AIM:The aim of the study was to review the clinical validation process of out of hours critical biochemistry results by a clinical biochemist and its effect on primary care services. METHODS:A prospective study was conducted of all critical results for primary care patients who were analysed out of hours. The nine-mon...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/0004563215595251
更新日期：2016-03-01 00:00:00
abstract：:The diagnostic performance of a new enzyme linked immunosorbent assay for the cardiac structural protein troponin T in the differential diagnosis of ischaemic cardiac damage was assessed. A well documented set of patients admitted to the coronary care unit of a district general hospital were studied. At a cutoff value...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456329303000102
更新日期：1993-01-01 00:00:00
abstract：:Auto-antibodies to oxidized low-density lipoprotein (ox-LDL) are thought to play a pivotal role in the pathogenesis of atherosclerosis. This study investigates the value of auto-antibodies to ox-LDL as a predictive marker of atherosclerosis in patients with both homozygous and heterozygous familial hypercholesterolaem...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/0004563001899177
更新日期：2000-03-01 00:00:00
abstract：BACKGROUND:Extraction followed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis is the method of choice when it comes to the accurate quantification of 25-OH-vitamin D in blood samples. It is generally assumed that the addition of exogenous internal standard allows for the determination of the endo...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/0004563214533316
更新日期：2015-01-01 00:00:00
abstract：:We have evaluated the clinical relevance of monitoring acute phase proteins in severe urinary tract infection. Body temperature, white blood cell count, erythrocyte sedimentation rate, serum amyloid A protein (SAA), C-reactive protein (CRP), alpha-1-antichymotrypsin (ACT) and alpha-1-acid glycoprotein (AGP) were deter...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456329303000308
更新日期：1993-05-01 00:00:00
abstract：:Inherited metabolic disorders account for a small but significant number of sudden unexplained deaths in neonates, infants and occasionally older children. In particular, inherited disorders of fatty acid oxidation may closely mimic sudden infant death syndrome. Post-mortem investigations offer the final opportunity t...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1258/0004563041201473
更新日期：2004-07-01 00:00:00
abstract：:A high-pressure liquid chromatography procedure for the measurement of free catecholamines in urine is described. 'On-line' sample preparation using a cartesian robot combined with the ASTED process ensures minimal operator intervention and reduced costs. ...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328902600412
更新日期：1989-07-01 00:00:00
abstract：:Clinical biochemists have long known the analytical and clinical limitations of creatinine and creatinine clearance measurement in the assessment of glomerular filtration rate (GFR). This background is reviewed in the article before assessing the utility of cystatin C, the most promising replacement biochemical marker...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1258/0004563021901847
更新日期：2002-03-01 00:00:00
abstract：:Background We investigated the in vitro effects of various phospholipids as emulsifiers on the hydrolysing activities of lipoprotein lipase (LPL) Arg243His against triolein as substrate. LPL Arg243His, identified in a patient with hyperchylomicronaemia, displays severely diminished activity for triolein when emulsifie...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/0004563217693258
更新日期：2017-11-01 00:00:00
abstract：:In a group of 121 adult patients with end-stage chronic renal failure who had been undergoing maintenance haemodialysis for up to 10 years a number of biochemical variables have been measured and related to a set of objective radiological changes in the same patients. The changes in plasma calcium, magnesium, phosphat...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456327501200126
更新日期：1975-05-01 00:00:00
abstract：:The total cost of a haematology and clinical chemistry laboratory, including external and hospital costs, was studied in a district general hospital in The Netherlands. The main conclusion is that the number of samples analysed is the most important cost-setting factor, but that reduction in the number of requests doe...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328402100206
更新日期：1984-03-01 00:00:00
abstract：BACKGROUND:Golgi protein-73 (GP73) is a newly identified candidate serum marker for liver diseases. The utility of this biomarker remains limited, largely due to the lack of quantitative information. The aims of this study were to quantify serum GP73 (sGP73) in healthy individuals and in patients with liver diseases, a...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/acb.2008.008088
更新日期：2009-01-01 00:00:00
abstract：:A case is presented of a 41-year-old man with a history of recurrent renal stones over 10 years. Analysis of the stone showed that, although it gave a positive reaction with the non-specific phosphotungstic acid test, uricase failed to identify any urate present. Analysis in a reference laboratory confirmed its compos...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/000456304322880087
更新日期：2004-03-01 00:00:00
abstract：:A bloodspot assay for testosterone has been developed using an antiserum raised against testosterone-3-carboxymethyloxime-bovine serum albumin (T-3 CMO-BSA) conjugate and 125I-T-3CMO-histamine tracer. The method has a detection limit of 0.4 nmol/L with between-batch precision of less than 15% for testosterone values b...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456329903600411
更新日期：1999-07-01 00:00:00
abstract：:Improvement in the control of diabetic patients is aided by a knowledge of blood glucose levels during a 'normal' (non-hospitalised) day. We have devised a 5 microliter capillary tube collection system as a 'kit' for home use by diabetics. Blood collected into 5 microliter capillary tubes is washed into a protein prec...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328101800507
更新日期：1981-09-01 00:00:00
abstract：:We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years, whose aetiology was never identified. Biochemical laboratory investigations ...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/0004563216677101
更新日期：2017-05-01 00:00:00
abstract：BACKGROUND:Measurement of serum natriuretic peptides is recommended in patients with suspected heart failure. Assays for N-terminal pro-B-type natriuretic peptide (NT-proBNP) are available on several platforms and can be measured in serum or heparinized plasma. Siemens Healthcare Diagnostics do not recommend the use of...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/acb.2012.012053
更新日期：2012-09-01 00:00:00
abstract：:During incubation with rabbit blood in vitro rabbit-muscle lactate dehydrogenase-5 was inactivated at a rate similar to that observed in vivo. By contrast plasma and plasma containing erythrocytes had no effect on the enzyme activity, but plasma containing leucocytes inactivated the enzyme at the same rate as whole bl...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456327701400109
更新日期：1977-01-01 00:00:00
abstract：:The two stages of a two-site immunoradiometric assay were investigated separately. In the first stage, the amount of ferritin bound to coated tubes initially showed a rapid increase with increasing concentration of added ferritin. This was followed by a plateau and then a further increase which appeared to be largely ...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456328402100510
更新日期：1984-09-01 00:00:00
abstract：:This review describes the development and application of a novel test to determine levels of human immunoreactive trypsin, an enzyme produced solely by the pancreas, in biological fluids. Being organ-specific, the assay of immunoreactive trypsin should be an ideal marker of pancreatic function, and this is supported b...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1177/000456327901600131
更新日期：1979-05-01 00:00:00
abstract：BACKGROUND:Biological variation of an analyte is an important determinant of its usefulness. Intraindividual variation in serum thyroid hormones, parathyroid hormone (PTH) and insulin-like growth factor-1 (IGF-1) in healthy subjects was determined in this study. METHODS:Blood samples were taken at weekly intervals for...
journal_title：Annals of clinical biochemistry
pub_type： 杂志文章
doi：10.1258/acb.2007.007103
更新日期：2008-03-01 00:00:00
