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Autor:
Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Holocarboxylase synthase (HCS) deficiency is an extremely rare metabolic disorder typically presenting as severe neonatal metabolic acidosis, lethargy, hypotonia, vomiting, and seizures. This report describes two siblings in a family with late-onset
Externí odkaz:
https://doaj.org/article/b37e84d2e6534cbfb3a10dfc51bd72a2
Autor:
Victor Marin, Louis Lebreton, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex. Other genes have been linked with less severe NKH, associated wi
Externí odkaz:
https://doaj.org/article/ca9a067b673b43a6bdd37600a68c21dd
Publikováno v:
Journal de la Faculté de Médecine d'Oran, Vol 8, Iss 1 (2024)
Intussusceptions of the small intestine in adults is very rare and represents only 1% of all cases of intestinal obstruction; this condition is rarely described in the literature. Surgery is the procedure of choice in most cases. We report a case of
Externí odkaz:
https://doaj.org/article/a45cbb3178c04028a555331d3a14c7a6
Autor:
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101076- (2024)
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treat
Externí odkaz:
https://doaj.org/article/3f6cf5bab6a04cf087bfd971ca90b02d
Publikováno v:
Land, Vol 13, Iss 6, p 891 (2024)
Multidimensional integrated indicators have become extremely popular for ranking territorial units and comparing them in terms of performance, development and quality of life. The concept of sustainability is not exempt from this global phenomenon. R
Externí odkaz:
https://doaj.org/article/b09f50254f354abe88f0274c66f7b17d
Autor:
Gaulier, Jean-Michel *, Gish, Alexandr, Hakim, Florian, Saint-Omer, Apolline, Mesli, Vadim, Richeval, Camille, Allorge, Delphine
Publikováno v:
In Toxicologie Analytique et Clinique March 2024 36(1):19-27
Autor:
Mesli-Kesraoui, Ouissem, Ledreck, Loic, Grolleau, Emmanuel, Kesraoui, Soraya, Berruet, Pascal, Ouhammou, Yassine, Girard, Patrick
Publikováno v:
In EURO Journal on Computational Optimization 2024 12
Autor:
Gaschignard, Margaux, Domenach, Louis, Lamireau, Delphine, Guibet, Claire, Roche, Sandrine, Richard, Emmanuel, Redonnet-Vernhet, Isabelle, Mesli, Samir, Lebreton, Louis
Publikováno v:
Frontiers in Genetics; 2024, p1-8, 8p
Autor:
Ouissem Mesli-Kesraoui, Loic Ledreck, Emmanuel Grolleau, Soraya Kesraoui, Pascal Berruet, Yassine Ouhammou, Patrick Girard
Publikováno v:
EURO Journal on Computational Optimization, Vol 12, Iss , Pp 100093- (2024)
In civil aircraft, two partially redundant hydraulic circuits typically power various systems. During assembly, a critical phase involves simultaneously rinsing and purging these hydraulic circuits using loops. Precedence constraints are necessary to
Externí odkaz:
https://doaj.org/article/74d10e6520004c86af5a5872a5a860d4