Abstract：
:The experience of a specialized laboratory for the biological diagnosis of inborn errors of metabolism in selected pediatrics patients is reported. The strategy starts with a wide testing of blood and urine, as many inborn errors of metabolism can be detected through testing of blood and urine for increased concentration of specific metabolites known to be associated with the genetic defect. Then enzymatic or DNA studies are performed to confirm the diagnosis. The mutant cells mostly fibroblasts are stored in a cell bank and available for other research.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Divry P,Maire I,Mathieu Msubject
Has Abstractpub_date
1988-01-01 00:00:00pages
381-6issue
6eissn
0003-3898issn
1950-6112journal_volume
46pub_type
杂志文章,评审abstract：:The aging process is an universal phenomenon. All individuals of a given species are dead by some age characteristic of the species. In spite of many biological and clinical observations on the changes that occur during aging, understanding about the causes of aging or the mechanisms determining "the life span potenti...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：AIMS:To evaluate the effect of the physical activity on bone turnover in young male soccer players at the Tanner's stage of 1-2. MATERIAL AND METHODS:61 young soccer players (13,4 +/- 0,3 years old) who actively participated in soccer since 3,7 +/- 0,7 years were compared to 60 age and sex- matched non active subjects...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2007-09-01 00:00:00
abstract：:The multimeric glycoprotein Von Willebrand factor (vWF), is produced by vascular endothelium and platelet. If some constitutionals deficiencies leading to hemorrhagic syndrome have been explored in the literature, increased production of vWF observed during cellular distress and pregnancy have not been explored in our...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2014.0956
更新日期：2014-05-01 00:00:00
abstract：:The stimulation regimens and the results of ovulation induction in anovulatory patients and in patients suffering from a Luteinized Unruptured Follicle (LUF) syndrome are discussed as well as the findings concerning superovulation in IVF cycles. The percentage of multiple pregnancies (less than or equal to 20 p. cent)...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:In Alzheimer's disease, cortical areas of affected patients are invaded by extracellular proteinous deposits called senile plaques, the main component of which is called amyloid beta-peptide or A beta. This peptide derives from the proteolytic attack of a precursor, the beta-amyloid precursor protein, by two enzymes c...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1998-05-01 00:00:00
abstract：:Cardiac troponin T (troponin Tc) of second generation has been measured on the Boehringer Elecsys 2010 analyzer. Cardiac specificity has been studied in patients presenting a rhabdomyolysis syndrome and the results compared with those obtained for cardiac troponin I (troponin Ic) measured on the Dade-Behring Stratus a...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1998-11-01 00:00:00
abstract：:Tissue Plasminogen Activator (t-PA), Single Chain Urokinase Plasminogen Activator or pro-Urokinase (scu-PA or pro-UK) and acyl enzymes are new thrombolytic agents, characterized by a high fibrin affinity, so that they provoke only mild systemic fibrinolytic effect. Their infusion would allie good thrombolytic activity...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:Using gas chromatography, we measured the concentrations of amino acids in a group of 80 selected subjects: we present the plasma values which we obtained, as well as those of other authors. Various comparisons were made, according to the age and/or sex of the subjects. We found that the plasma levels of valine, leuci...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:Toxicological screening is a specific approach to analytical toxicology that uses analytical tools such as GC-MS, LC-UV (diode array) or LC-MS. Toxicological screening allows the detection and simultaneous identification of a large number of compounds. The results may be based on the use of one or more techniques. As ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
doi：10.1684/abc.2019.1422
更新日期：2019-04-01 00:00:00
abstract：:Red cell ferritin is a residue of erythroblast ferritin. It reflects the balance between the iron supply to the erythroid marrow and the need for haemoglobin synthesis. Erythrocyte ferritin can be measured in haemolysates after discarding plasma and leucocytes by different methods. The decrease in erythrocyte ferritin...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1993-01-01 00:00:00
abstract：:Anemia is the most common pathology encountered in hematology. Etiologies are numerous, so it is important to adopt a rigorous approach. Complementary examinations must be specific to the clinical situation in order to determine the mechanisms on the one hand and decide the therapeutic management on the other. We repo...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2011.0584
更新日期：2011-05-01 00:00:00
abstract：:In the perspective of a future request of accreditation according to the NF EN 15189 standard of the sector of prenatal diagnosis of the trisomy 21 foetal, we compared the results obtained for AFP, hCG, free hCG, PAPP-A and for the risks, according to 2 types of blood collection tubes: sterile tube and sterile tube wi...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2015.1032
更新日期：2015-05-01 00:00:00
abstract：:In a control population, we filed the 24-hour urinary calcium to set normal values, based on weight, BMI and menopause. By assessing calcium intake, 25OHD, PTH, CTX, GFR, we wanted to study how these could influence calcium excretion. A total of 317 subjects of 55.82 ± 12.6 years were studied: 249 women (210 were post...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2016.1174
更新日期：2016-08-01 00:00:00
abstract：:Type 2 diabetes (T2DM) associated with non-alcoholic fatty liver disease (NAFLD) increases cardiovascular risk. Complex and subtle connections are established between hepatic dysfunction and adipose tissue hyperactivity. This relationship is mediated by insulin resistance, dyslipidemia and inflammation. Recently incre...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2019.1436
更新日期：2019-06-01 00:00:00
abstract：:Several biological parameters for assessing selenium status have been determined in years 1985-1986 in a large Belgian population group, males and females 0 to 92 years old, representative from Brussels and surroundings. In 145 people, 20 to 79 years old, mean concentrations were: 1.06 +/- 0.15 mumol Se/l plasma, 5.0 ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:A growing number of clinical practice guidelines (CPG) is published. This is understandable because CPG are the corner stone in the evaluation of professional practices (EPP). One cannot deny that EPP is necessary. However, in order for the EPP to reach their objectives, which are to use our resources better and to im...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2009.0341
更新日期：2009-07-01 00:00:00
abstract：:We present the distribution of cytochrome P450, the terminal oxidase of the microsomal drug-metabolizing system among the different species, organs, and its subcellular localization. Physicochemical properties, and more specially spectral properties, of this hemoprotein are reviewed. We also described the two microsom...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1975-01-01 00:00:00
abstract：:We report the case of an 83-year-old woman admitted to the accident and emergency unit for pneumopathy. The blood cell count on the DXH automaton (Coulter® ™ UniCel® DxH) found a normochromic and normocytic anemia, anormal platelet count and subnormal leukocyte formula. The only alarm raised by the automaton was the p...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2018.1406
更新日期：2019-04-01 00:00:00
abstract：:Laboratory diagnosis of pheochromocytoma must give evidence of increased catecholamine production. This requires measurement of catecholamines and their metabolites (normetanephrine NMN, metanephrine MN and/or VMA) in urine or in plasma. The various assays can be also performed during dynamic test that stimulate or in...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1993-01-01 00:00:00
abstract：:The simultaneous presence of homogeneous and heterogeneous reactions at different binding sites of a multiepitope antigen makes the description of the kinetic parameters of the so called "one step" solid phase immunometric assays complex. The authors extended the "one step" approach to the concept of the "soluble sand...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:M.I.S.-Enterobacteriaceae is a new kit for identifying Enterobacteriaceae using a microplate consisting of 21 biochemical characters with automated reading and interpretation. The validity of this method was studied by the identification of 350 strains of enterobacteria belonging to 44 species and comparison with the ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Eighteen paraplegics with or without neurogenic osteo-arthropathy (POAN) were evaluated for variations in their urinary excretion levels of total (T), and free (L) hydroxyproline and its non-dialysable (ND) and dialysable (D) peptide fractions. Increases in urinary hydroxyproline, moderate rises in free hydroxyproline...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
doi：10.1684/abc.2020.1582
更新日期：2020-10-01 00:00:00
abstract：:We investigated two different freezing protocols on mouse embryos that were either grown in vivo or were grown in vitro for a certain period. Our results confirm that an extended in vitro culture period makes the embryo more susceptible for injury due to freezing and thawing. Furthermore when freezing two cell mouse e...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:The full blood count (FBC) is the most prescribed laboratory test in France. Due to the lack of data, there is a great variability in reference values of the FBC, between medical laboratories. The aim of this work was to provide normal reference values for FBC in adults. These normal values were defined in a populatio...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2014.0979
更新日期：2014-09-01 00:00:00
abstract：:A diffuse lesion in the alveolar-capillary membrane appears as an initial pathological event which preludes the emergence of an Acute Respiratory Distress (ARDS) with pulmonary oedema. The implication of polymorphous nuclear cells (PMN) as the cells initiating this lesion remains solidly established. The activation of...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Cytofluorograph analysis after immunofluorescence with monoclonal antibodies can be useful for various antigens identification on the surface of cell membrane. This technic is described for antigen HLA B27 identification. This HLA antigen is known indeed to be linked to rhumatismal diseases. The fluorescence histogram...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:We evaluated a rapid and semi-quantitative C-Reactive Protein test on whole blood, the Actim CRP (Fumouze). Based on immuno-chromatography technology, this test ranked the blood sample in four groups: < 10 mg/L, 10-40 mg/L, 40-80 mg/L and > 80 mg/L. This evaluation finds an excellent repeatability, the absence of hook...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2005-09-01 00:00:00
abstract：:In this report, the authors have studied the plasma and red blood cell concentrations of both zinc and copper in 90 uremic patients treated by intermittent hemodialysis. They found that plasmatic and erythrocytic levels of zinc together with the copper red blood cell concentrations determined before and after the hemo...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1989-01-01 00:00:00
abstract：:The great diversity of methods for manganese analysis in biological materials (serum, plasma, whole blood, urine, spinal fluid and hair) reveals the difficulty in measuring extremely small quantities of this element. An examination of these methods demonstrate that the most used one is flameless atomic absorption spec...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1988-01-01 00:00:00
