Search Results - "Jaidane, Z"
-
1
Critical assessment of lifelong phenotype correction in hyperbilirubinemic Gunn rats after retroviral mediated gene transfer
Published in Gene therapy (01-09-2007)“…Among inherited diseases of the liver, Crigler-Najjar type 1 disease (CN-1), which results from complete deficiency in bilirubin UDP-glucuronosyltransferase…”
Get full text
Journal Article -
2
Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01-10-2007)“…Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical…”
Get full text
Journal Article -
3
Biochemical and molecular diagnosis of Gaucher disease in Tunisia
Published in Annales de biologie clinique (Paris) (01-11-2007)“…Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father…”
Get more information
Journal Article -
4
Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease
Published in Pathologie biologie (Paris) (01-03-2008)“…Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The…”
Get full text
Journal Article -
5
Le peptide natriurétique type B (BNP) chez les insuffisants cardiaques tunisiens
Published in Immuno-analyse & biologie spécialisée (01-08-2010)“…Heart failure is a major public health problem and despite significant advances in treatment remains the only cardiovascular disease still on the rise. It has…”
Get full text
Journal Article -
6
C-réactive protéine ultrasensible et facteurs de risque cardiovasculaire dans une population tunisienne
Published in Immuno-analyse & biologie spécialisée (01-06-2011)“…C-reactive protein ultrasensitive (CRPus) is a member of very old and very conserved pentraxines family. It is characterized by homopentameric structure. It is…”
Get full text
Journal Article -
7
Hyperhomocystéinémie et stress oxydant chez les insuffisants cardiaques
Published in Immuno-analyse & biologie spécialisée (01-08-2010)“…An imbalance between production of free radicals and oxidative protection in association with the coronary decease and their consequences such heart failure…”
Get full text
Journal Article -
8
Dépistage prénatal de la trisomie 21 par les marqueurs sériques : expérience tunisienne
Published in Immuno-analyse & biologie spécialisée (01-08-2010)“…Maternal marker screening for Down's syndrome is based on an individual risk calculation obtained by weighting the risk due to maternal age by a factor linked…”
Get full text
Journal Article -
9
Étude des marqueurs du stress oxydatif chez les coronariens tabagiques tunisiens
Published in Immuno-analyse & biologie spécialisée (01-06-2010)“…The present study was undertaken to evaluate the variation of the parameters of antioxidant and oxidant status in coronary smokers Tunisian patients. We made…”
Get full text
Journal Article -
10
La mucopolysaccharidose de type I : identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01-10-2007)“…La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, due au déficit en α-L-iduronidase (IDUA). C'est une maladie grave avec un…”
Get full text
Journal Article -
11
Analyse moléculaire de la mutation p.Asn 370 Ser dans la maladie de Gaucher
Published in Pathologie biologie (Paris) (01-03-2008)“…La maladie de Gaucher est la plus fréquente des maladies génétiques lysosomales. Dans cette étude, nous avons essayé d’appliquer une stratégie diagnostique de…”
Get full text
Journal Article -
12
Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis
Published in Immuno-analyse & biologie spécialisée (01-02-2010)“…Hurler's syndrome or mucopolysaccharidosis type IH (MPS IH) is the most severe form of mucopolysaccharidosis type I (MPS I). It is caused by the deficiency of…”
Get full text
Journal Article -
13
Étude de la corrélation entre l’adiponectine et l’hyper-homocystéine dans le syndrome métabolique : expérience tunisienne
Published in Immuno-analyse & biologie spécialisée (01-04-2011)Get full text
Journal Article -
14
Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis
Published in Immuno-analyse & biologie spécialisée (2010)Get full text
Journal Article -
15
Étude de l’enzyme de conversion de l’angiotensine I et de l’hyperhomocystéinémie chez les coronariens tunisiens
Published in Immuno-analyse & biologie spécialisée (01-08-2010)“…The acute coronary syndromes (ACS) are polygenic and complex pathologies. The increase of angiotensin I converting enzyme (ACEI) activity and homocysteinemia…”
Get full text
Journal Article -
16
Report of a case of Lyell syndrome
Published in Annales de biologie clinique (Paris) (01-09-2004)“…Toxic epidermal necrolysis (TEN) is a rare drug-induced disease characterized by extensive epidermal destruction. We reported here a case of Lyell syndrome…”
Get more information
Journal Article -
17