Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Sandrine, Laradi"'
Autor:
Latifa Chkioua, Yessine Amri, Chayma Sahli, Tawfik Nasri, Mohamed Omar Miladi, Taieb Massoud, Sandrine Laradi, Mohamed Ghorbel, Hassen Ben Abdennebi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration o
Externí odkaz:
https://doaj.org/article/a0f20a6f241f4b069a2613f7ba1d5aaa
Autor:
Latifa Chkioua, Houda El Fissi, Yessine Amri, Chayma Sahli, Fadoua Bouzid, Hela Boudabous, Neji Tbib, Salima Ferchichi, Taieb Massoud, Najat Alif, Sandrine Laradi, Hassen Ben Abdennebi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective st
Externí odkaz:
https://doaj.org/article/15bce9b578064770b9c19476d24d775b
Autor:
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 15, Iss 1, Pp 1-7 (2023)
Abstract Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues. The hi
Externí odkaz:
https://doaj.org/article/5c3a8d027fbc4cf9ba800c73837901e7
Autor:
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
Publikováno v:
Diagnostic Pathology, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly as
Externí odkaz:
https://doaj.org/article/719f2484eacd45bd80f7b8a19e31bbfd
Autor:
Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-l-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical f
Externí odkaz:
https://doaj.org/article/05e8d5831c2b44aab94c8e7c13743974
Autor:
Hind Hamzeh-Cognasse, Philippe Berthelot, Bernard Tardy, Bruno Pozzetto, Thomas Bourlet, Sandrine Laradi, Olivier Garraud, Fabrice Cognasse
Publikováno v:
Platelets, Vol 29, Iss 6, Pp 533-540 (2018)
In addition to their haemostatic role and function in the repair of damaged vascular epithelium, platelets play a defensive role in innate immunity, having the capacity to produce and secrete various anti-infectious factors, as well as cytokines, che
Externí odkaz:
https://doaj.org/article/7e2d0aef9a8842f593159458209e7a44
Autor:
Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi
Publikováno v:
Diagnostic Pathology, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermedia
Externí odkaz:
https://doaj.org/article/19f742a2ac334e2fb43125117847891f
Autor:
Latifa Chkioua, Yessine Amri, Sahli Chaima, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/92ffcb6638d14c009fa5b4e80550f66f
Autor:
Chaker Aloui, Céline Barlier, Danielle Awounou, Stéphane Claverol, Jocelyne Fagan, Fabrice Cognasse, Olivier Garraud, Sandrine Laradi
Publikováno v:
Data in Brief, Vol 25, Iss , Pp - (2019)
The presented dataset was used for the study focused on the search for differentially expressed proteins in blood platelet components (PCs) associated with adverse transfusion reactions (ATRs). Pellets of ATR platelet components and their controls we
Externí odkaz:
https://doaj.org/article/3eeb858081a44ae68d27c23671e3ba8e
Autor:
Fabrice Cognasse, Sandrine Laradi, Philippe Berthelot, Thomas Bourlet, Hubert Marotte, Patrick Mismetti, Olivier Garraud, Hind Hamzeh-Cognasse
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Blood platelets play a central hemostatic role, (i) as they repair vascular epithelial damage, and (ii) they play immune defense roles, as they have the capacity to produce and secrete various cytokines, chemokines, and related products. Platelets se
Externí odkaz:
https://doaj.org/article/1382bfdc1eae4447b2272cfc2f51e4ea