Chris Ottolenghi
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Explore the profile of Chris Ottolenghi including associated specialties, affiliations and a list of published articles.
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83
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2622
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Recent Articles
1.
Mochel F, Meneret A, Adanyeguh I, Giron C, Hainque E, Luton M, et al.
Neurology
. 2025 Jan;
104(2):e210194.
PMID: 39804569
Background And Objectives: Brain energy deficiency occurs at the early stage of Huntington disease (HD). Triheptanoin, a drug that targets the Krebs cycle, can restore a normal brain energetic profile...
2.
Imbard A, de Calbiac H, Le Guillou E, Laforet P, Schiff M, Brassier A, et al.
J Inherit Metab Dis
. 2024 Dec;
48(1):e12819.
PMID: 39648745
Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A...
3.
Drossart T, Buffet A, Janbain A, Ottolenghi C, Amar L, Libe R, et al.
J Clin Endocrinol Metab
. 2024 Nov;
PMID: 39541377
Context And Objective: Identifying the risk of malignancy and genetic status in primary paraganglioma or pheochromocytoma (PPGL) is a key challenge. The aim was to assess the diagnostic accuracy of...
4.
Eid R, Zamparini E, Ouchrif Y, Snanoudj R, Ottolenghi C, Zaidan M
BMC Nephrol
. 2024 Aug;
25(1):260.
PMID: 39138387
Background: Pyroglutamic acidosis is a rare cause of high anion gap metabolic acidosis. Most cases of paracetamol related pyroglutamic acidosis are described in malnourished women and patients with kidney/liver failure,...
5.
Busiah K, Roda C, Crosnier A, Brassier A, Servais A, Wicker C, et al.
Mol Genet Metab
. 2024 Jan;
141(3):108123.
PMID: 38219674
Objectives: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong protein-restricted diet. We aimed to investigate: 1/ whether IAAMDs was associated with growth, pubertal, bone mineral apparent density (BMAD) or body composition...
6.
Klank S, van Stein C, Gruneberg M, Ottolenghi C, Rauwolf K, Grebe J, et al.
Pharmaceutics
. 2023 Jul;
15(7).
PMID: 37514038
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter,...
7.
Geoerger B, Schiff M, Penard-Lacronique V, Darin N, Saad S, Duchon C, et al.
Nat Med
. 2023 May;
29(6):1358-1363.
PMID: 37248298
D-2-hydroxyglutaric aciduria type II (D2HGA2) is a severe inborn disorder of metabolism caused by heterozygous R140 mutations in the IDH2 (isocitrate dehydrogenase 2) gene. Here we report the results of...
8.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, et al.
J Inherit Metab Dis
. 2023 Mar;
47(1):41-49.
PMID: 36880392
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain...
9.
Di Stefano A, Nichelli L, Berzero G, Valabregue R, Touat M, Capelle L, et al.
Neurology
. 2022 Sep;
100(1):e94-e106.
PMID: 36180241
Background And Objectives: D-2-hydroxyglutarate (2HG) characterizes -mutant gliomas and can be detected and quantified with edited MRS (MEGA-PRESS). In this study, we investigated the clinical, radiologic, and molecular parameters affecting...
10.
Pontoizeau C, Simon-Sola M, Gaborit C, Nguyen V, Rotaru I, Tual N, et al.
Nat Commun
. 2022 Jun;
13(1):3278.
PMID: 35672312
Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. Treatment for MSUD represents an...