Abstract：
:Galactose is normally metabolized to glucose through the coordinated activities of three enzymes: galactokinase, galactose-1-phosphate uridyl transferase (GALT), and uridine diphospho-glucose 4-epimerase (epimerase). High concentrations of galactose and their metabolites are toxic to mammals. Hereditary deficiencies of galactokinase and of GALT and perhaps rarely of epimerase cause clinical disorders that can be prevented by early recognition and institution of a galactose-free diet. The genetics of disorders of galactose metabolisms and the methods used currently for their detection are reviewed. Future prospects in the diagnosis of these disorders are discussed.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Beutler Edoi
10.1016/0009-9120(91)80003-lsubject
Has Abstractpub_date
1991-08-01 00:00:00pages
293-300issue
4eissn
0009-9120issn
1873-2933pii
0009-9120(91)80003-Ljournal_volume
24pub_type
杂志文章,评审abstract：INTRODUCTION:The clinical catchment area for the Metabolic service at the Women's and Children's Hospital in Adelaide, South Australia, covers nearly 2.5millionkm2. Care of children with metabolic disorders in these remote areas is assisted from Adelaide, and at times, using plasma ammonia results from laboratories up ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2016.11.025
更新日期：2017-04-01 00:00:00
abstract：:A spectrophotometric study was carried out for three proteins assays when modification of their serum procedures using bromcresol green, bromcresol purple and biuret reagents were applied to the determinations of total proteins and albumin in cerebrospinal fluids. A novel concentration device wherein the sample itself...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(81)90165-x
更新日期：1981-02-01 00:00:00
abstract：OBJECTIVES:High density lipoprotein (HDL)-associated paraoxonase-1 (PON-1) exerts anti-oxidative properties, whereas phospholipid transfer protein (PLTP) is able to convert mature HDL into larger and smaller HDL particles. Here we tested associations of PON-1 with PLTP in type 2 diabetes mellitus (T2DM), a condition ch...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.11.017
更新日期：2016-04-01 00:00:00
abstract：OBJECTIVES:To test the hypothesis that impaired expression of the thiosulfate sulfurtransferase rhodanese is associated with oxidative stress and may predict mortality in hemodialysis patients. DESIGN AND METHODS:Sixty-two hemodialysis patients were investigated to determine protein and mRNA expression of rhodanese in...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.08.005
更新日期：2010-01-01 00:00:00
abstract：OBJECTIVE:We examined the association of plasma apolipoprotein (apoB) B-48, remnant-like particle (RLP)-cholesterol and non-HDL cholesterol concentrations with apoB-100 kinetics in overweight-obese men. METHODS AND RESULTS:Very-low density lipoprotein (VLDL), intermediate-density lipoprotein (IDL) and low-density lipo...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.05.009
更新日期：2005-09-01 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 examine the diagnostic validity of bone alkaline phosphatase (BAP) in serum (a marker of bone formation) and of urinary excretion of pyridinium cross-links (PYR) (a marker of bone resorption) for detection of bone metastases. DESIGN AND METHODS:Two heterogeneous immunoassays were employed for determinati...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(95)96621-a
更新日期：1995-10-01 00:00:00
abstract：:Thyroxine binding protein characteristics were defined in 6 normal subjects, 4 with thyroxine binding globulin (TBG) deficiency, 3 with TBG increase, one with hyperthyroxinemic dysalbuminemia, 7 with severe non-thyroidal illness, and 3 with chronic renal failure. Free thyroxine was measured by Sephadex partition in pl...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(86)80073-x
更新日期：1986-02-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:A large number of studies have examined the association between the Membrane-spanning 4 domains, superfamily A, number 2 (MS4A2) gene C-109T (rs1441586) or E237G (rs569108) variants and asthma risk. However, the results are inconsistent and inconclusive. To derive a more precise estimation, a m...
journal_title：Clinical biochemistry
pub_type： 杂志文章,meta分析
doi：10.1016/j.clinbiochem.2014.01.022
更新日期：2014-05-01 00:00:00
abstract：OBJECTIVES:Therapeutic monitoring of everolimus with chromatographic methods (HPLC) enabled effective immunosuppression while limiting the incidence of drug-related adverse events. A fluorescence polarization immunoassay (FPIA) has been recently developed for the assessment of everolimus levels. The present study was d...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.08.013
更新日期：2006-12-01 00:00:00
abstract：OBJECTIVES:To assess the association of serum adiponectin and microvascular complications of diabetes in an urban south Indian type 2 diabetic population. DESIGN AND METHODS:Diabetic subjects [n=487] were included from Chennai Urban Rural Epidemiology Study (CURES). Four-field stereo retinal color photography was done...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2014.10.009
更新日期：2015-01-01 00:00:00
abstract：OBJECTIVE:Prior to initial distribution of Glucose-6-phosphate dehydrogenase (G6PD) proficiency testing (PT) materials, we evaluated G6PD enzyme stability in dried blood spots (DBS) under various temperature and humidity environments to develop storage and usage guidelines for our new materials. DESIGN & METHODS:We pr...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2017.05.003
更新日期：2017-10-01 00:00:00
abstract：OBJECTIVES:Recurrent miscarriage (RM) is a challenging medical problem because of its unknown pathogenesis and etiology in most of the cases. Recent studies suggest the role of persistent environmental pollutants such as organochlorine pesticides (OCPs) in the etiology of RM. The present study was conducted to investig...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.09.019
更新日期：2010-01-01 00:00:00
abstract：:We compared results of urine drug analysis with clinical data and history to test the usefulness of peripartum drug screening and to establish guidelines for optimal testing. Urine from 28 mothers and 52 babies was analysed. Drugs not suspected by history were found in 10 mothers and six babies. Results assisted in th...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(88)80113-9
更新日期：1988-01-01 00:00:00
abstract：OBJECTIVE:Saposin C (SAP-C) is an essential activator of glucosylceramide (GlcCer)-β-glucosidase (GCase), the enzyme deficient in Gaucher's disease. In this study, we investigated the effects of chemically synthesized SAP-Cs (synthetic SAP-Cs) on GCase. METHODS:Enzymatic assays and western blot analyses were carried o...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.06.004
更新日期：2015-11-01 00:00:00
abstract：:Enzymic fluorimetric methods are described for the determination of primary bile acids and of chenodeoxycholic acid (CDC) and cholic acid (C) in serum. Bile acids are extracted from 0.3 mL of serum in a simple 5-min step with use of Sep-Pak C cartridges. Total primary bile acids are measured by an equilibrium techniqu...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(84)90145-0
更新日期：1984-08-01 00:00:00
abstract：BACKGROUND:The p53 gene is an established tumor suppressor and an inducer of apoptosis. We here attempt to determine whether the putative anticarcinogenic properties attributed to red wine and its polyphenolic constituents depend, at least in part, upon their ability to modulate p53 expression in cancer cells. METHODS...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(01)00246-6
更新日期：2001-07-01 00:00:00
abstract：OBJECTIVES:The clinical analysis of hemoglobin by ion exchange chromatography can result in ambiguities in identification of the nature of the globin chain present in patient samples. LC/ESI-MS provides rapid and precise determination of globin chain masses. DESIGN AND METHODS:Hemolysate of hemoglobin Q-India and hemo...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.09.006
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:Recently cortisol level in hair is supposed to be a good biomarker of chronic stress. We had developed a new method based on HPLC-FLU for identification of cortisol in human hair and measured cortisol distribution of each 1-cm segment along hair shaft. DESIGN AND METHODS:Hair sample was pulverized and incuba...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.01.014
更新日期：2010-05-01 00:00:00
abstract：OBJECTIVE:To evaluate the clinical use of Homocysteine-Primavette, a new blood collection medium for total homocysteine (tHcy) assay. METHODS:The agreement between baseline tHcy and tHcy in stabilized samples (40 h) was assessed for FPIA, HPLC, GC-MS, LC-MS, and ICL. RESULTS:tHcy concentrations in whole blood were st...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.03.005
更新日期：2007-06-01 00:00:00
abstract：OBJECTIVE:Third generation oral contraceptives (OC) may increase the risk of cardiovascular events in healthy young women. DESIGN AND METHODS:We assessed the effect of second and third generation OC on CRP, lipids and apolipoproteins in 128 women. RESULTS:CRP was significantly higher in third generation contraceptive...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.12.013
更新日期：2010-04-01 00:00:00
abstract：OBJECTIVES:The aims of this study were to develop a new technique for determination of iron content of serum ferritin (ICF, micromol Fe/mg protein) and to investigate relations between ICF and clinical status in patients with hyperferritinemia. METHODS:ICF values were determined by a combination of immunoprecipitation...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(02)00380-6
更新日期：2002-10-01 00:00:00
abstract：OBJECTIVES:The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene. DESIGN AND MET...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.08.014
更新日期：2008-02-01 00:00:00
abstract：:Fluoride is a potent therapeutic agent that increases spinal bone density in osteoporotic subjects. Based on work with animal cells previously, we proposed fluoride acts by inhibiting phosphotyrosyl protein phosphatase (EC 3.1.3.48) activity in bone cells. The presence of fluoride sensitive acid phosphatase (EC 3.1.3....
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(92)80045-i
更新日期：1992-02-01 00:00:00
abstract：:1,5-anhydroglucitol (AG) is a nonmetabolizable glucose analogue found in plasma due to ingestion. The normal steady-state concentration can be dramatically decreased by inhibition of tubular reabsorption during periods of hyperglycemia. For this reason, monitoring of AG has been plausibly advocated for detection of pe...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2008.08.086
更新日期：2009-02-01 00:00:00
abstract：:The concentrations in serum of total and ionised calcium, phosphate, magnesium, albumin and alkaline phosphatase activity were measured in patients when hyperthyroid and again when euthyroid. Significant declines in the mean values of ionised calcium, phosphate and alkaline phosphatase activity and significant increas...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(89)80035-9
更新日期：1989-10-01 00:00:00
abstract：:The field of miRNA research is evolving at a very fast pace. Since their discovery almost 20years ago, miRNAs have proven to be of tremendous importance to normal physiological homeostasis as well as to the pathogenesis of major diseases such as cancer. Recent advances describe a key contribution for miRNAs in a wide ...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2013.02.009
更新日期：2013-07-01 00:00:00
abstract：:Fibroblast growth factor 23 (FGF-23), a key hormone for the regulation of the phosphorus homeostasis, has also several direct effects on cardiac function. In heart failure (HF), the increase of FGF-23 participates to cardiac hypertrophy and remodeling. Measurement of the intact, biologically active hormone is now avai...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2018.09.003
更新日期：2018-11-01 00:00:00
abstract：OBJECTIVE:To characterize the lipid-related atherogenic risk factors in iron deficiency anaemia (IDA) patients. DESIGN AND METHODS:Twenty IDA women were compared to healthy age-matched controls. Lipoprotein profile, cholesteryl ester transfer protein (CETP), paraoxonase (PON) 1 and lipoprotein-associated phospholipase...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.10.003
更新日期：2010-03-01 00:00:00
abstract：:In hepatobiliary disease, the level of bile acids in the peripheral circulation is greatly increased due to impaired liver function. It has been suggested that serum bile acids are of greater value in confirming hepatobiliary dysfunction than the currently assayed conventional biochemical parameters. Fifty patients wi...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(81)91052-3
更新日期：1981-12-01 00:00:00
