Zobrazeno 1 - 10 of 43 pro vyhledávání: '"Isabelle Redonnet-Vernhet"'
1
Akademický článek
Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review
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
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2
Akademický článek
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant
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
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3
Akademický článek
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review
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
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4
Akademický článek
Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1‐driven acute lymphoblastic leukemia
Autor: Tra Ly Nguyen, Marie‐Julie Nokin, Silvia Terés, Mercedes Tomé, Clément Bodineau, Oriane Galmar, Jean‐Max Pasquet, Benoit Rousseau, Sebastian vanLiempd, Juan Manuel Falcon‐Perez, Elodie Richard, Elodie Muzotte, Hamid‐Reza Rezvani, Muriel Priault, Marion Bouchecareilh, Isabelle Redonnet‐Vernhet, Julien Calvo, Benjamin Uzan, Françoise Pflumio, Patricia Fuentes, Maria L. Toribio, Abdel‐Majid Khatib, Pierre Soubeyran, Piedad del Socorro Murdoch, Raúl V. Durán
Publikováno v: Molecular Oncology, Vol 15, Iss 5, Pp 1412-1431 (2021)
The cellular receptor Notch1 is a central regulator of T‐cell development, and as a consequence, Notch1 pathway appears upregulated in > 65% of the cases of T‐cell acute lymphoblastic leukemia (T‐ALL). However, strategies targeting Notch1 signa
Externí odkaz: https://doaj.org/article/35c04b323d3d4645a1349eaea077bcd1
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6
Postauthorization safety study of betaine anhydrous
Autor: Ulrike Mütze, Florian Gleich, Sven F. Garbade, Céline Plisson, Luis Aldámiz‐Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R. Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi‐Vici, Pavel Ješina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet‐Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Publikováno v: Journal of Inherited Metabolic Disease, 45(4), 719-733. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b856ecf57728c53d7cca9c359d9feb
https://doi.org/10.1002/jimd.12499
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7
Review of nutritional components in Covid-19: what about micronutrients?
Autor: Muriel, Bost, Emmanuel, Richard, Isabelle, Redonnet-Vernhet, François, Parant, Lysiane, Boulet, Thierry, Dupré, Delphine, Collin-Chavagnac, Samir, Mesli, Marie-Christine, Beauvieux, Samuel, Zozor
Publikováno v: Annales de biologie clinique. 80(4)
Nutritional status is an important protection factor against viral infections. Both undernutrition and malnutrition cause deficits in micronutrients, trace elements and vitamins necessary for various physiological functions and the appropriate functi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::928d18bd8e47bc76e89f7ecb731dcea6
https://pubmed.ncbi.nlm.nih.gov/36099350
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8
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
Autor: Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786
Item does not contain fulltext 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d46842247db613f3948216a26335491
https://doi.org/10.1002/jimd.12323
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