Anais Brassier
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Explore the profile of Anais Brassier including associated specialties, affiliations and a list of published articles.
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81
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1095
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Recent Articles
1.
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, et al.
Kidney Int Rep
. 2024 Dec;
9(12):3362-3374.
PMID: 39698355
Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective...
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.
Salardaine Q, Shor N, Villain N, Bozon F, Amador M, Duchon C, et al.
J Inherit Metab Dis
. 2024 Jun;
47(5):1069-1079.
PMID: 38897600
Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not...
5.
Curie A, Lion-Francois L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, et al.
Neurology
. 2024 Mar;
102(8):e209243.
PMID: 38531017
Background And Objectives: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and...
6.
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...
7.
Martin G, Brassier A, Gabison E
Can J Ophthalmol
. 2024 Jan;
59(3):e265.
PMID: 38253316
No abstract available.
8.
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...
9.
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)...
10.
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...