Jean-Francois Benoist
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Explore the profile of Jean-Francois Benoist including associated specialties, affiliations and a list of published articles.
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107
Citations
1377
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Recent Articles
1.
Mondesert E, Baud B, Roubertie A, Benoist J, Grillet P, Cristol J, et al.
Heliyon
. 2025 Feb;
11(3):e42086.
PMID: 39916850
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute...
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.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat C, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108579.
PMID: 39305737
Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been...
4.
Jury J, Benoist J, Joubert M, Quelin C, Besnard T, Conrad S, et al.
Clin Genet
. 2024 Sep;
106(6):776-781.
PMID: 39221916
Glutathione synthetase deficiency is a rare inborn metabolic disease usually caused by biallelic variants in GSS. Clinical severity varies from isolated hemolytic anemia, sometimes associated with chronic metabolic acidosis and...
5.
Bouhlel J, Caffin F, Gros-Desormeaux F, Douki T, Benoist J, Castelli F, et al.
Metabolites
. 2024 Jul;
14(7).
PMID: 39057672
Sulfur mustard (SM) is a highly potent alkylating vesicant agent and remains a relevant threat to both civilians and military personnel. The eyes are the most sensitive organ after airborne...
6.
Prot-Bertoye C, Jung V, Tostivint I, Roger K, Benoist J, Jannot A, et al.
Clin Kidney J
. 2024 Mar;
17(3):sfae040.
PMID: 38510798
Background: Cystinuria is associated with a high prevalence of chronic kidney disease (CKD). We previously described a urinary inflammatory-protein signature (UIS), including 38 upregulated proteins, in cystinuric patients (Cys-patients), compared...
7.
El Osta M, Benoist J, Naubourg P, Bonacorsi S, Messine R, Ducoroy P, et al.
Clin Chem Lab Med
. 2024 Feb;
62(6):1149-1157.
PMID: 38353144
Objectives: Newborn screening (NBS) for sickle cell disease (SCD) requires a robust, high-throughput method to detect hemoglobin S (HbS). Screening for SCD is performed by qualitative methods, such as isoelectric...
8.
Labouret M, Trebossen V, Ntorkou A, Bartoli S, Aubart M, Auvin S, et al.
Lupus
. 2024 Feb;
33(4):328-339.
PMID: 38315109
Objective: Juvenile systemic lupus erythematosus (j-SLE) is a rare chronic auto-immune disease involving several organs. Neuropsychiatric (NP) SLE (NPSLE) is frequent in j-SLE and associated with increased morbidity/mortality. Although NPSLE...
9.
Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells C, et al.
Prenat Diagn
. 2023 Dec;
44(1):28-34.
PMID: 38054546
Objective: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with...
10.
Rafat C, Doreille A, Dancer M, Werion A, Benoist J, Raymond L, et al.
Clin Kidney J
. 2023 Nov;
16(11):2299-2301.
PMID: 37915912
No abstract available.