Abstract：
:Lysosomal storage diseases are genetically determined metabolic diseases characterized by dysmorphology and dysfunction of the lysosomal system. The lysosomal pathology can have different causes; these are (i) the deficiency of a lysosomal enzyme or subunit thereof, (ii) the deficiency of a protein assisting one or more lysosomal enzymes in their catalytic function by activation and/or stabilization, or by substrate presentation, (iii) the deficiency or dysfunction of a lysosomal membrane carrier protein essential for the export of degradation products from the lysosomal interior to the cytoplasm or, (iiii) defective targeting of lysosomal proteins to the lysosomes. This excerpt of an oral presentation given at Eurolab 93 starts with a general introduction on lysosomes and lysosomal storage diseases and devotes attention to current issues in this field.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Reuser AJ,Kroos MA,Visser WJ,Willemsen Rsubject
Has Abstractpub_date
1994-01-01 00:00:00pages
721-8issue
10eissn
0003-3898issn
1950-6112journal_volume
52pub_type
杂志文章,评审abstract：:http://biotribune.com/ Biotribune.com ou la biologie medicale sur internet. Ce site est concu comme un portail sur la biologie clinique. Accueil d'internautes sur une page comportant, entre autres, les rubriques : actualite, evenements, revue des connaissances, rubrique juridique et petites annonces. Biotribune propos...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2000-07-01 00:00:00
abstract：:SFBC working group on critical care testing describes in this paper guideline for the management of laboratory medicine examination process in emergency conditions. After a summary on French standards and regulations, the critical care testing perimeter and definitions of stat levels are presented in different context...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
doi：10.1684/abc.2015.1113
更新日期：2016-03-01 00:00:00
abstract：:The analyzers have been defined as follows: the analyzers are multiparametric (at least 5 parameters available simultaneously), selective, operating patient by patient, list price on May 1, 1984 below 1,000,000 francs, and distributed in France after January 1, 1981. This definition applies in particular to systems al...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:The non-secreting myeloma is a rare form of myeloma. Its association with a nephrotic syndrome is exceptional. The observation which we report below described the history of a 66 years old patient who presents a non-secreting myeloma revealed by a nephrotic syndrome. Various assumptions on the mechanism of no excretio...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-09-01 00:00:00
abstract：:The analysis of longitudinal series of tumour markers during chemotherapy in patients with germ cells tumors is not easy. The purpose of this work is to present various characteristic profiles of the evolution of serum human chorionic gonadotropin during chemotherapy and review the modalities of the dynamic interpreta...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2008.0260
更新日期：2008-09-01 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：:Gas-liquid chromatography has been used directly on clinical specimens as a method for presumptive diagnosis of anaerobic infections. This technique proved to be valuable and reliable. Combined with a Gram stain, it offers the possibility to differentiate in less than 1 hour aerobic from anaerobic infections by means ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:This paper points out the structural and physiological data of galectin-3, and emphasizes its role in cardiac fibrosis and heart failure pathophysiology. Then we summarize the optimal conditions for sampling, assays and we discuss the interpretation of results. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2014.0977
更新日期：2014-07-01 00:00:00
abstract：:The search for sperm is part of the examinations wich may be prescribed, following a request of jucicial services, in case of a suspicion of sexual assault. This article applies to detail how the different phases, pre-analytical, analytical and post-analytical, must be absolutely adhered to so that the biologist, expe...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2008.0274
更新日期：2008-09-01 00:00:00
abstract：:Schistocytes result from red cell fragmentation. The identification of the schistocytes is critical for appropriate management of the patients. We report the results of a survey about the determination of schistocytes. The analysis of the answers of 24 well-trained biologists points out the different approaches used t...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:A reversed-phase high-performance liquid chromatographic assay for the determination of the HIV protease inhibitors amprenavir (Agenerase) and indinavir (Crixivan) in human plasma is described, using a mobile phase consisting of 0.50 M phosphate buffer (adjusted to pH 5,5) - Milli-Q water - acetonitrile (120: 1,080: 8...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:Exploring coagulation in newborns and children is a challenge due to the low levels of both procoagulant factors and inhibitors. Conventional coagulation tests might be inadequate to explore all of these changes. The aim of the study is to evaluate the thrombin generation assay, a global test to explore coagulation, i...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2020.1607
更新日期：2020-12-01 00:00:00
abstract：:This paper describes the assessment of the homogeneity and stability of a purified and lyophilized human thyroglobulin (Tg), and characterizes its immunoreactivity. The purified and lyophilized Tg is intended to be used as a primary reference material to establish calibration of working serum based reference material....
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:The introduction of the CRM 470 in 1993 (certified reference material for 14 serum proteins) and its utilization by industrial companies for cross-calibrating their commercial standards has been an important break-through in protein standardization. This improvement has been clearly illustrated by the last national qu...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:The diagnosis of non ST elevation myocardial infarction (NSTEMI) is very important for the emergency doctor. According to the literature copeptin, a marker of the endogenous stress, combined with troponin could be of interest in this diagnosis. The objective of the study was to investigate the association of high-sens...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0884
更新日期：2013-09-01 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：:Monoclonal antibodies are being used as drugs in the diagnosis, prevention, and treatment of human diseases. The discipline of antibody engineering has evolved with modern cellular and molecular biology methods to meet the challenge of producing human monoclonal antibodies for in vivo biotherapy. In this overview, app...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Primary cancer of the liver, especially common in inter-tropical Africa and South-East Asia, still remains inaccessible to a really effective therapy, except for a rapid surgical excision. Improvement of its particularly poor prognosis requires therefore early screening based on reliable biological markers. Following ...
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
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：:In biochemistry laboratory, monoclonal immunoglobulins are frequently found. They can lead to analytical interferences which are difficult to anticipate. In this case reports, a monoclonal immunoglobulin M with cryoglobulin effect has been responsible of false result of protein electrophoresis because of the whole pre...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2007-09-01 00:00:00
abstract：:Human hair analysis is now recognized for evaluating someone exposure to xenobiotics: drugs of abuse, pharmaceuticals and polluants. This paper describes analytical methods than can be used by biologists. For drugs of abuse after decontamination, hydrolysis of hair, selective extraction and derivatization, determinati...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1997-09-01 00:00:00
abstract：:To validate the use of the i-STAT portable point-of-care instrument, performance checks have been conducted to verify its accuracy for PCO2/PO2 (tonometry) and precision for pH/PCO2/PO2 (control solutions). Results obtained with the i-STAT (pH/PCO2/PO2/Hct) were also compared to those provided by the Bayer Rapidlab 86...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：:The aim of this study is to evaluate the anomalies of coagulation (by assaying the factor VIII, fibrinogen, D-dimer and resistance to activated protein C) in patients with lung cancer. METHODS:101 patients newly diagnosed with lung cancer before treatment and 72 control blood donors were included in the study after i...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2019.1445
更新日期：2019-06-01 00:00:00
abstract：:A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis inve...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0863
更新日期：2013-07-01 00:00:00
abstract：:The evidence for disturbances of tryptophan and 5-hydroxytryptamine in depression and for various mechanisms by which such disturbances could occur is discussed. Two recent relevant studies in the author's laboratory are described: a) non-esterified fatty acid and total and free tryptophan were determined in plasmas o...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Inhibins, activins, and anti-Mullerian hormone (AMH) are gonadal dimeric peptides produced in ovaries and testes by homologous cells, granulosa cells and Sertoli cells, respectively. The production of inhibins is driven by FSH, that of AMH may indirectly depends on FSH, while it is down regulated, at least in the male...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2009.0329
更新日期：2009-05-01 00:00:00
abstract：:Cystic fibrosis (CF), is the most common life-shortening autosomal recessive disorder in Caucasians. It is caused by mutations in a single gene on the long arm of chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is characterized by abnormal Na+ and Cl- ion transport ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2008.0285
更新日期：2008-11-01 00:00:00
abstract：:The oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused by the inositol biphosphate 5-phosphatase deficiency, localized to the Golgi complex. Several mutations were reported in patient's OCRL gene leading to enzyme deficiency. We report a Moroccan case of OCRL syndrome of Lowe with a neo mutation ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-01-01 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：: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
