Claire-Marine Berat
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Explore the profile of Claire-Marine Berat including associated specialties, affiliations and a list of published articles.
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11
Citations
40
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Recent Articles
1.
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...
2.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Rotig A, Gaignard P, Barcia G, Assouline Z, Berat C, Barth M, et al.
Neurol Genet
. 2024 Jul;
10(4):e200167.
PMID: 38975049
Background And Objectives: DNA polymerase subunit gamma (POLG) deficiency is likely the most frequent cause of nuclear-encoded mitochondrial disorders. -related disorders reportedly constitute a spectrum of overlapping phenotypes from infancy...
3.
Telehuz D, Plesa O, Bouilloud F, Wucher H, de Lonlay P, Berat C, et al.
Front Endocrinol (Lausanne)
. 2024 Jul;
15:1408003.
PMID: 38952388
We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of...
4.
Dupuy G, Roux C, Barrois R, Imbard A, Pontoizeau C, Dangles M, et al.
Eur J Paediatr Neurol
. 2024 Mar;
50:6-15.
PMID: 38520815
Background And Aims: Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This...
5.
Wicker C, Roux C, Goujon L, de Feraudy Y, Hully M, Brassier A, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107674.
PMID: 37542768
Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S)...
6.
Imbard A, Bouchereau J, Arnoux J, Brassier A, Schiff M, Berat C, et al.
Orphanet J Rare Dis
. 2023 Jul;
18(1):207.
PMID: 37480106
Background: Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion...
7.
Brassier A, Pichard S, Schiff M, Bouchereau J, Berat C, Caillaud C, et al.
Mol Genet Metab
. 2023 Jul;
139(4):107650.
PMID: 37454519
In Infantile Onset Pompe Disease (IOPD), enzyme replacement therapy (ERT) may improve survival, cardiac function, and motor development. However, even with early enzyme replacement therapy, some patients experienced poor response...
8.
Fremond M, Hully M, Fournier B, Barrois R, Levy R, Aubart M, et al.
J Clin Immunol
. 2023 May;
43(6):1436-1447.
PMID: 37171742
The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a...
9.
Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Berat C, Altenburger L, et al.
J Inherit Metab Dis
. 2023 Jan;
46(4):649-661.
PMID: 36680547
Mutations in the LPIN1 gene constitute a major cause of severe rhabdomyolysis (RM). The TLR9 activation prompted us to treat patients with corticosteroids in acute conditions. In patients with LPIN1...
10.
Berat C, Roda C, Brassier A, Bouchereau J, Wicker C, Servais A, et al.
Mol Genet Metab Rep
. 2021 Jan;
26:100655.
PMID: 33473351
Context: A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs). Objective: To describe the use of ETF in...