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Isabelle Redonnet-Vernhet

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Articles 23
Citations 182
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Recent Articles
1.
Gaschignard M, Domenach L, Lamireau D, Guibet C, Roche S, Richard E, et al.
Front Genet . 2024 Oct; 15:1249480. PMID: 39391064
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...
2.
Marin V, Lebreton L, Guibet C, Mesli S, Redonnet-Vernhet I, Dexant M, et al.
Front Genet . 2024 Sep; 15:1432272. PMID: 39323869
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes , or involved in the glycine cleavage complex. Other genes have been linked with...
3.
Redonnet-Vernhet I, Mercie P, Lebreton L, Blouin J, Bronnimann D, Mesli S, et al.
Mol Genet Metab Rep . 2024 Apr; 39:101076. PMID: 38601120
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...
4.
Denimal D, Badiou S, Blin J, Bonnan M, Boullier A, Chauvin A, et al.
Ann Biol Clin (Paris) . 2024 Feb; 81(6):585-590. PMID: 38391163
The recreational use of nitrous oxide (N2O) is an emerging public health issue. Chronic N2O abuse may result in various clinical symptoms, encompassing neurological, psychiatric and cardiovascular outcomes. Despite the...
5.
Bost M, Richard E, Redonnet-Vernhet I, Parant F, Boulet L, Dupre T, et al.
Ann Biol Clin (Paris) . 2022 Sep; 80(4):319-331. PMID: 36099350
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...
6.
Mutze U, Gleich F, Garbade S, Plisson C, Aldamiz-Echevarria L, Arrieta F, et al.
J Inherit Metab Dis . 2022 Mar; 45(4):719-733. PMID: 35358327
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...
7.
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux J, Damaj L, et al.
J Inherit Metab Dis . 2021 May; 44(5):1199-1214. PMID: 34014557
Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not...
8.
Schneider A, Picard W, Honore P, Dewitte A, Mesli S, Redonnet-Vernhet I, et al.
Anaesth Crit Care Pain Med . 2021 Feb; 40(2):100813. PMID: 33588088
Background: Continuous renal replacement therapy (CRRT) is associated with micronutrients loss. Current recommendations are to administer 1-1.5g/kg/day of proteins during CRRT. We aim to evaluate the net effect of CRRT...
9.
Dias Amoedo N, Sarlak S, Obre E, Esteves P, Begueret H, Kieffer Y, et al.
J Clin Invest . 2021 Jan; 131(1). PMID: 33393495
Metabolic reprogramming is a common hallmark of cancer, but a large variability in tumor bioenergetics exists between patients. Using high-resolution respirometry on fresh biopsies of human lung adenocarcinoma, we identified...
10.
Nguyen T, Nokin M, Teres S, Tome M, Bodineau C, Galmar O, et al.
Mol Oncol . 2020 Dec; 15(5):1412-1431. PMID: 33314742
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...