Abstract：
:Congenital galactosemia is a hereditary, autosomal recessive and metabolic disease. It is linked to an enzyme deficiency, more commonly known by the deficiency of galactose-1- phosphate uridyltransferase (GALT), which is responsible for an accumulation of galactose-1- phosphate in the blood. Clinical symptoms appear early in infancy from the second week of life. They generally manifested by some disorders within liver, kidney, eye, gastrointestinal, neurological and also with cataracts. Currently, the clinical diagnosis remains difficult hence the importance of further investigations based on effective biological assessments to highlight the disease. The diagnosis of galactosemia is made by the laboratory test. The latter includes the determination of Gal-1-P which is done by a fluorometric method spot test. This study was conducted in order to assess the repeatability, reproducibility, accuracy, and effectiveness of the techniques used. We have found the CV for a repeatability (CV = 5 %), reproducibility (CV = 4 %) which confirms the accuracy of the method proceeded in this study. This method allows us to have a degree of inaccuracy less than 1%. According to the study of the effectiveness of "spot test", we found that our technique is specific (Sp = 93 %) and sensitive (Se = 83 %).
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Braham I,Charfeddine B,Ben Othmene L,Neffati S,Mtar A,Ben Abdallah J,Ali Smach M,Dridi H,Limem Kdoi
10.1684/abc.2011.0653subject
Has Abstractpub_date
2012-01-01 00:00:00pages
85-8issue
1eissn
0003-3898issn
1950-6112pii
abc.2011.0653journal_volume
70pub_type
杂志文章abstract：:The recent development of specific and sensitive biochemical markers reflecting the overall rate of bone formation and bone resorption, has markedly improved the non invasive assessment of bone turnover in various metabolic bone diseases, especially for osteoporosis. The immunoassay of human osteocalcin recognizing th...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1999-03-01 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
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abstract：:Recently, homocysteine and new inflamatory biomarkers are demonstrated to be involved in cardiovascular diseases. These risk factors are not well studied in acute coronary syndrome. We investigated the distribution of homocysteine and inflammatory markers in patients with acute coronary syndrome and evaluated the asso...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2011.0533
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
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更新日期：1997-05-01 00:00:00
abstract：:We propose a double antibody radioimmunoassay for human prostatic acid phosphatase (PAP) in serum for diagnosis and management of prostatic adenocarcinoma under treatment. The antigen is purified from human prostatic fluid by a gel-filtration on Sephadex G 100 followed by affinity chromatography on Con A Sepharose. A ...
journal_title：Annales de biologie clinique
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更新日期：1982-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0884
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journal_title：Annales de biologie clinique
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更新日期：1989-01-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：1998-07-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1985-01-01 00:00:00
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journal_title：Annales de biologie clinique
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更新日期：1978-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2018.1393
更新日期：2018-12-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2019.1499
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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
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2015.1090
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2016.1200
更新日期：2017-02-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2004-05-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
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journal_title：Annales de biologie clinique
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doi：
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journal_title：Annales de biologie clinique
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doi：
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2008.0227
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journal_title：Annales de biologie clinique
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1983-01-01 00:00:00
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journal_title：Annales de biologie clinique
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doi：10.1684/abc.2010.0459
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journal_title：Annales de biologie clinique
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doi：
更新日期：1981-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2009.0391
更新日期：2009-11-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
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更新日期：1980-01-01 00:00:00
abstract：:Haloperidol is extracted with hexane-isoamyl alcohol in the presence of two internal standards, chlorohaloperidol and spiroperidol. For chromatographic separation, a C18 reversed-phase column and a mobile phase of acetonitrile/methanol/phosphate buffer are used. Detection is by UV absorption spectrophotometry at 245 n...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
