当前位置： SCI文献检索 > EUROPEAN JOURNAL OF CLINICAL INVESTIGATION期刊下所有文献 > Hereditary deficiency of triosephosphate isomerase in four unrelated families.

Hereditary deficiency of triosephosphate isomerase in four unrelated families.

Abstract：

:Triosephosphate isomerase deficiencies in erythrocytes and leucocytes were discovered in three unrelated families by a heterozygote screening of 3000 blood samples. In addition, a family found by Schroter et al. [not published] was studied. In these four families, only heterozygote carriers were found. In the family described by Freycon et al. with hetero- and homozygote carriers of triosephosphate isomerase deficiency, the heterozygotes were reinvestigated. There was 51% of normal enzyme activity in three of the families. In the other two families the enzyme activity was 64% and 71% of normal. Two of the eleven heterozygotes, both children, were diseased, but it seems unlikely that the disorders resulted from the deficiencies. The activities of thirteen enzymes, the Km of triosephosphate isomerase for glyceraldehyde phosphate and the concentrations of metabolites were normal. Antibody titration showed normal specific activities in four families and 50% of normal in one family. No electrophoretic variant was detected. From the proved heredity, a heterozygous frequency of at least 1/1000 is indicated. A maximal frequency of 5/1000 is estimated by using further instances of triosephosphate isomerase deficiency where heredity has not yet been investigated. An explanation for the small number of known cases is that this enzyme is not routinely assayed.

journal_name

Eur J Clin Invest

journal_title

European journal of clinical investigation

authors

Eber SW,Dünnwald M,Belohradsky BH,Bidlingmaier F,Schievelbein H,Weinmann HM,Krietsch KG

doi

10.1111/j.1365-2362.1979.tb00923.x

keywords:

subject

Has Abstract

pub_date

1979-06-01 00:00:00

pages

195-202

issue

3

eissn

0014-2972

issn

1365-2362

journal_volume

9

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION文献大全
  • Development of bone mineral loss in insulin-treated diabetes: a 1 1/2 years follow-up study in sixty patients.

    abstract：:The change in bone mass during 1 1/2 years was determined in a longitudinal study of sixty adult insulin-treated diabetic out-patients. During the study period the mean bone mass decreased by 1.30 +/- 0.28 (SEM)% (P less than 0.001), to a mean value of 91.0 +/- 1.7% of normal (P less than 0.001). The rate of bone loss...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1981.tb01765.x

    authors： McNair P,Christiansen C,Christensen MS,Madsbad S,Faber OK,Binder C,Transbøl I

    更新日期：1981-02-01 00:00:00

  • Insulin time-dependent effects on the leg exchange of glucose and amino acids in man.

    abstract：:Time-dependent effects of insulin on the leg exchange of glucose, lactate, glycerol, free fatty acids (FFA) and amino acids were measured in relation to oxygen uptake (leg and whole body) and whole body glucose assimilation including oxidation. Seven healthy males (58 +/- 3 years of age) were investigated before opera...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1991.tb01390.x

    authors： Lundgren F,Edén E,Arfvidsson B,Lundholm K

    更新日期：1991-08-01 00:00:00

  • A critical update on the immunopathogenesis of Stiff Person Syndrome.

    abstract：BACKGROUND:Stiff Person Syndrome (SPS) is a relatively rare but often overlooked autoimmune neurological disorder that targets antigens within the brain's inhibitory pathways resulting in incapacitating stiffness and spasms that impact on the patients' quality of life. Although a number of immunomodulating therapies si...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章,评审

    doi：10.1111/j.1365-2362.2010.02340.x

    authors： Alexopoulos H,Dalakas MC

    更新日期：2010-11-01 00:00:00

  • Effect of insulin analogues on 3t3-l1 adipogenesis and lipolysis.

    abstract：BACKGROUND:Insulin has several biological functions besides glycaemic control. We investigated and compared the effects of six different commercial insulins on adipocyte cell differentiation, the lipolytic activity of differentiated cells, and the expression levels of genes involved in adipogenesis and associated with ...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2011.02492.x

    authors： García-Escobar E,Rodríguez-Pacheco F,Haro-Mora JJ,Gomez-Zumaquero JM,Rubio-Martín E,Gutierrez-Repiso C,Soriguer F,Rojo-Martínez G

    更新日期：2011-09-01 00:00:00

  • Interactions among gender, age, hypertension and C-reactive protein in coronary vasospasm.

    abstract：BACKGROUND:Coronary vasospasm (CVsp) has been reported to be an inflammatory disease, reflected by elevated high-sensitivity C-reactive protein (hs-CRP). We investigated the interactions among gender, age, hypertension and hs-CRP in patients with CVsp. MATERIALS AND METHODS:We retrospectively examined 722 Taiwanese pa...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2010.02360.x

    authors： Hung MY,Hsu KH,Hung MJ,Cheng CW,Cherng WJ

    更新日期：2010-12-01 00:00:00

  • A comparative study of two methods of measurement of fractional calcium absorption: results in normal individuals and patients with various disturbances of calcium metabolism.

    abstract：:Two methods of measurement of fractional calcium absorption have been compared in the same individuals. There is a significant correlation between fractional 47Ca absorption as measured with a blood counting method and with an external counting method after intravenous and oral administration of 47Ca (P less than 0.00...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1978.tb00826.x

    authors： Juttmann JR,Ruis AM,Hagenouw-Taal JC,Lockefeer JH,Birkenhäger JC

    更新日期：1978-06-01 00:00:00

  • Uricaemia and ejection fraction in elderly heart failure outpatients.

    abstract：BACKGROUND:Preliminary data suggest that serum uric acid (SUA) could be involved in the prognosis of chronic heart failure (HF). The aim of our study was to test the relationship between SUA and left ventricular ejection fraction (EF%) in a cohort of elderly hypertensive outpatients with chronic HF. DESIGN:We consecut...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.12273

    authors： Borghi C,Cosentino ER,Rinaldi ER,Cicero AF

    更新日期：2014-06-01 00:00:00

  • Peripheral loss of CD8(+) CD161(++) TCRVα7·2(+) mucosal-associated invariant T cells in chronic hepatitis C virus-infected patients.

    abstract：BACKGROUND:Mucosal-associated invariant T (MAIT) cells play an important role in innate host defence. MAIT cells appear to undergo exhaustion and are functionally weakened in chronic viral infections. However, their role in chronic hepatitis C virus (HCV) infection remains unclear. MATERIALS AND METHODS:We investigate...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.12581

    authors： Barathan M,Mohamed R,Vadivelu J,Chang LY,Saeidi A,Yong YK,Ravishankar Ram M,Gopal K,Velu V,Larsson M,Shankar EM

    更新日期：2016-02-01 00:00:00

  • Platelet noradrenaline release in patients with familial hypercholesterolaemia.

    abstract：:We have examined resting and thrombin (0.3 units ml-1) induced release of noradrenaline by washed platelets from 15 normal subjects and eight patients with heterozygous familial hypercholesterolaemia. Platelets from both normal and hypercholesterolaemic subjects showed irreversible aggregation with 0.3 units ml-1 thro...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1989.tb00225.x

    authors： Smith CC,Wilson AP,Prichard BN,Betteridge DJ

    更新日期：1989-06-01 00:00:00

  • Glutathione, glutathione utilizing enzymes and thioltransferase in platelets of insulin-dependent diabetic patients: relation with platelet aggregation and with microangiopatic complications.

    abstract：:Reduced glutathione (GSH) and activity of GSH related enzymes play a key role in defence against oxygen free radicals, whose production is, as known, raised in patients affected by diabetes mellitus, and at the same time they may contribute to the process of platelet aggregation. The purpose of this study was to evalu...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1995.tb01983.x

    authors： Di Simplicio P,de Giorgio LA,Cardaioli E,Lecis R,Miceli M,Rossi R,Anichini R,Mian M,Seghieri G,Franconi F

    更新日期：1995-09-01 00:00:00

  • Effect of lactose on oro-cecal transit in lactose digesters and maldigesters.

    abstract：BACKGROUND:The transit time of the small intestine, in addition to lactase activity, may influence lactose digestion and thus play a role in the occurrence of lactose intolerance. The objectives of this study were to investigate the effect of lactose on the oro-cecal transit time (OCTT) in lactose digesters and maldige...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2006.01713.x

    authors： He T,Priebe MG,Welling GW,Vonk RJ

    更新日期：2006-10-01 00:00:00

  • Strategies used by individuals to prevent burnout.

    abstract：BACKGROUND:Burnout represents a syndrome that is related to demanding job characteristics combined with the absence of resources or motivational job characteristics. The aim of this position study was to present strategies that individuals use to minimize burnout and its unfavourable effects. MATERIALS AND METHODS:The...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章,评审

    doi：10.1111/eci.12494

    authors： Demerouti E

    更新日期：2015-10-01 00:00:00

  • Basal cyclic AMP levels in human blood mononuclear cells.

    abstract：:Basal cyclic AMP levels in blood mononuclear cells from healthy human donors has been studied. A great variation in cyclic AMP content ranging from below 2 to 20 pmol 10(-6) cells was seen. Incubation of the cells at 37 degrees C mostly showed a time-dependent decrease in basal cyclic AMP, levelling off after 16 h. Wh...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1984.tb01179.x

    authors： Svenson M,Permin H,Wiik A

    更新日期：1984-08-01 00:00:00

  • Fibronectin in synovial fluid and tissue in rheumatoid arthritis.

    abstract：:Fibronectin is a glycoprotein found in body fluids, loose connective tissue matrix and in basement membranes. Fibronectin in rheumatoid arthritis synovial fluid was immunologically indistinguishable from the plasma form, as shown by double-diffusion analysis. Fibronectin isolated from rheumatoid synovial fluid by affi...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1981.tb01842.x

    authors： Vartio T,Vaheri A,Von Essen R,Isomäki H,Stenman S

    更新日期：1981-06-01 00:00:00

  • Thiopurine metabolism monitoring: implications in inflammatory bowel diseases.

    abstract：BACKGROUND:Thiopurines (TP) are widely used in the management of inflammatory bowel diseases. Side effects and inefficacy are a major concern as they lead to withdrawal of the drug. MATERIALS AND METHODS:Tools investigating TP metabolism are useful to avoid inadequate cessation of TP therapy. RESULTS:TP metabolism is...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章,评审

    doi：10.1111/j.1365-2362.2010.02346.x

    authors： Dewit O,Starkel P,Roblin X

    更新日期：2010-11-01 00:00:00

  • Lichen planus and hepatitis C virus in the northern Kyushu region of Japan.

    abstract：:Oral lichen planus (OLP) is a common oral disorder that manifests a mucosal reaction to a variety of aetiological factors, including liver disorder. This study investigated the relationship between OLP and hepatitis C virus (HCV) infection by studying the prevalence of hepatitis B and C virus infection or liver diseas...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1995.tb01966.x

    authors： Nagao Y,Sata M,Tanikawa K,Itoh K,Kameyama T

    更新日期：1995-12-01 00:00:00

  • Endothelin-1 and vein graft occlusion in patients undergoing bypass surgery.

    abstract：:The saphenous vein is the most commonly used graft for revascularization procedures in patients with coronary artery disease and critical limb ischaemia. However, the patency rate of this vessel is poor, with a high proportion of patients requiring further surgery. Early graft occlusion is caused by vasoconstriction o...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章,评审

    doi：10.1111/j.1365-2362.2009.02124.x

    authors： Dashwood MR

    更新日期：2009-06-01 00:00:00

  • Nasal nitric oxide in cystic fibrosis with and without humming.

    abstract：BACKGROUND:Nasal nitric oxide (nNO) values are reduced in patients with cystic fibrosis (CF). Humming during nNO measurement increases nNO values in healthy subjects. Nasal NO is reduced in patients with CF, sinus disease or nasal polyps. Humming nNO values have not been reported in CF patients yet. Our aim was to expl...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2007.01758.x

    authors： Struben VM,Sewbalak WV,Wieringa MH,Mantingh CJ,van den Toorn LM,Bakker M,Feenstra L,de Jongste JC

    更新日期：2007-02-01 00:00:00

  • Enterohepatic cycling of bilirubin as a cause of 'black' pigment gallstones in adult life.

    abstract：:In contrast to bile salts, which undergo a highly efficient enterohepatic circulation with multiple regulatory and physiologic functions, glucuronic acid conjugates of bilirubin are biliary excretory molecules that in health do not have a continuing biologic life. Intestinal absorptive cells are devoid of recapture tr...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章,评审

    doi：10.1046/j.1365-2362.2003.01214.x

    authors： Vítek L,Carey MC

    更新日期：2003-09-01 00:00:00

  • Higher ACE2 expression levels in epicardial cells than subcutaneous stromal cells from patients with cardiovascular disease: Diabetes and obesity as possible enhancer.

    abstract：AIMS:Obesity, diabetes and cardiovascular disease are associated with COVID-19 risk and severity. Because epicardial adipose tissue (EAT) expresses ACE2, we wanted to identify the main factors associated with ACE2 levels and its cleavage enzyme, ADAM17, in epicardial fat. MATERIALS AND METHODS:Epicardial and subcutane...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.13463

    authors： Couselo-Seijas M,Almengló C,M Agra-Bermejo R,Luis Fernandez Á,Alvarez E,R González-Juanatey J,Eiras S

    更新日期：2020-11-29 00:00:00

  • TGF-beta1 overexpression in the transversalis fascia of patients with direct inguinal hernia.

    abstract：BACKGROUND:The aetiology of inguinal hernia includes changes in collagen turnover and metalloproteinase (MMP) expression, and direct hernia has been linked to increased MMP-2 expression. Since transforming growth factor beta1 (TGFbeta1) plays a role in tissue remodelling, this growth factor could directly affect metall...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2007.01816.x

    authors： Pascual G,Corrales C,Gómez-Gil V,Buján J,Bellón JM

    更新日期：2007-06-01 00:00:00

  • Lipoprotein modifications during dietary treatment in patients with primary type V hyperlipoproteinaemia.

    abstract：:Type V hyperlipoproteinaemia is a disorder of lipid transport characterized by the accumulation in serum of chylomicrons and very low density lipoproteins. The purpose of the study was the analysis of serum lipids and lipoproteins by ultracentrifugation in nine patients with primary type V hyperlipoproteinaemia before...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1986.tb01322.x

    authors： Manzato E,Marin R,Gasparotto A,Baggio G,Martini S,Gabelli C,Crepaldi G

    更新日期：1986-04-01 00:00:00

  • Comorbidity predicts survival in myelodysplastic syndromes or secondary acute myeloid leukaemia after allogeneic stem cell transplantation.

    abstract：BACKGROUND:Recent data suggest that, among other factors, comorbidity may be an important prognostic variable in patients with myelodysplastic syndromes (MDS) who are eligible for haematopoietic stem cell transplantation (SCT). PATIENTS AND METHODS:We examined the overall survival (OS) and underlying risk factors in 4...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2008.02041.x

    authors： Boehm A,Sperr WR,Leitner G,Worel N,Oehler L,Jaeger E,Mitterbauer M,Haas OA,Valent P,Kalhs P,Rabitsch W

    更新日期：2008-12-01 00:00:00

  • The influence of sorafenib on hepatic encephalopathy and the mechanistic survey in cirrhotic rats.

    abstract：BACKGROUND:Sorafenib, a multikinase inhibitor that inhibits angiogenesis and carcinogenesis, has been used for patients with advanced hepatocellular carcinoma. However, sporadic cases have been reported with the development of hepatic encephalopathy (HE) after sorafenib treatment, mostly in those with cirrhosis. Liver ...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.12006

    authors： Hsu SJ,Hsin IF,Lin YL,Chen YC,Huang HC,Lee FY,Lin HC,Chang CC,Lee SD

    更新日期：2012-12-01 00:00:00

  • Intravenous clusterin administration reduces myocardial infarct size in rats.

    abstract：BACKGROUND:Clusterin (Apolipoprotein J), a plasma protein with cytoprotective and complement-inhibiting activities, localizes in the infarcted heart during myocardial infarction (MI). Recently, we have shown a protective effect of exogenous clusterin in vitro on ischaemically challenged cardiomyocytes independent of co...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2010.02345.x

    authors： Van Dijk A,Vermond RA,Krijnen PA,Juffermans LJ,Hahn NE,Makker SP,Aarden LA,Hack E,Spreeuwenberg M,van Rossum BC,Meischl C,Paulus WJ,Van Milligen FJ,Niessen HW

    更新日期：2010-10-01 00:00:00

  • Congestive heart failure: involvement of perivascular peptides reflecting activity in sympathetic, parasympathetic and afferent fibres.

    abstract：:In controls and in patients suffering from congestive heart failure (CHF) the circulating levels of catecholamines, neuropeptide Y-like immunoreactivity (NPY-LI), vasoactive intestinal peptide-LI (VIP-LI), substance P-LI (SP-LI) and calcitonin generated peptide-LI (CGRP-LI) markers of sympathetic, parasympathetic and ...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1990.tb01796.x

    authors： Edvinsson L,Ekman R,Hedner P,Valdemarsson S

    更新日期：1990-02-01 00:00:00

  • The association of profilin-1 levels with survival in chronic kidney disease.

    abstract：BACKGROUND:Profilin-1 is a ubiquitous, actin-binding protein that plays an important role in the regulation of actin polymerization and cytoskeleton remodelling and contributes to vascular dysfunction. We conducted this study to investigate the association of serum profilin-1 levels with fatal and nonfatal CVE in a coh...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.12839

    authors： Eroglu E,Unal HU,Guclu A,Kocyigit I,Karaman M,Saglam M,Gezer M,Tas A,Zararsiz G,Eyileten T,Aydin İ,Oguz Y,Gungor O,Yilmaz MI

    更新日期：2017-12-01 00:00:00

  • Effect of acute hyperglycaemia on sensory processing in diabetic autonomic neuropathy.

    abstract：BACKGROUND:Acute hyperglycaemia is known to increase gastrointestinal (GI) sensitivity in healthy subjects and may contribute to the increased prevalence of GI symptoms in diabetes patients. The aim of this study was to evaluate the effect of acute hyperglycaemia on perception and brain responses to painful visceral an...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.2010.02335.x

    authors： Frøkjaer JB,Søfteland E,Graversen C,Dimcevski G,Drewes AM

    更新日期：2010-10-01 00:00:00

  • Hepatocyte growth factor and interferon-γ inducible protein-10 are related to visceral adiposity.

    abstract：BACKGROUND:Increased production of chemokines by adipose tissue and defective adipose tissue oxygenation as a result of obesity may induce leucocyte infiltration and subsequent systemic inflammation. OBJECTIVES:1-To determine the relation between the amount of visceral and subcutaneous adipose tissue and the chemokine...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/eci.12054

    authors： Faber DR,van der Graaf Y,Westerink J,Kanhai DA,Monajemi H,Visseren FL,SMART study Group.

    更新日期：2013-04-01 00:00:00

  • Studies on urea cycle enzymes in rat liver during acute uraemia.

    abstract：:Activities of urea cycle enzymes were measured in the liver of starved rats 12 and 48 h after bilateral nephrectomy. Control experiments (sham-operated, starved rats) revealed that the activities of only two enzymes of the cycle are altered in the uraemic state: argininosuccinic acid synthetase (EC 6.3.4.5.), which is...

    journal_title：European journal of clinical investigation

    pub_type： 杂志文章

    doi：10.1111/j.1365-2362.1975.tb00423.x

    authors： Hoppe-Seyler G

    更新日期：1975-02-01 00:00:00