Alice Kuster
Overview
Explore the profile of Alice Kuster including associated specialties, affiliations and a list of published articles.
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45
Citations
596
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Recent Articles
1.
Dybal E, Maillot F, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109044.
PMID: 39919675
Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendations suggest maintaining...
2.
Strehle E, Battini R, Gowda V, Kuster A, Amin S, Bertoldi M, et al.
Genet Test Mol Biomarkers
. 2025 Jan;
29(1):12-18.
PMID: 39841990
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino...
3.
Brachet M, Charriere S, Douillard C, Feillet F, Fouilhoux A, Astudillo L, et al.
J Neurol
. 2024 Dec;
272(1):53.
PMID: 39666084
Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group...
4.
Ader F, Derridj N, Brehin A, Domanski O, Baudelet J, Gras P, et al.
Int J Cardiol
. 2024 Nov;
419:132729.
PMID: 39549770
Background: There are limited data that can explain the earlier penetrance and the different expressivity of pediatric cardiomyopathy (pCM) compared to adult-onset cardiomyopathy (aCM). In addition, the relationship between genotype...
5.
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...
6.
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, et al.
Hepatology
. 2023 Nov;
79(5):1075-1087.
PMID: 37976411
Background And Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to...
7.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, et al.
Eur J Neurol
. 2023 May;
30(9):2828-2837.
PMID: 37235686
Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term...
8.
Imbard A, Toumazi A, Magreault S, Garcia-Segarra N, Schlemmer D, Kaguelidou F, et al.
Orphanet J Rare Dis
. 2022 Nov;
17(1):417.
PMID: 36376887
Background: Betaine is an "alternate" methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for...
9.
Kozich V, Schwahn B, Sokolova J, Krizkova M, Ditroi T, Krijt J, et al.
Redox Biol
. 2022 Oct;
58:102517.
PMID: 36306676
Regulation of HS homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of HS by studying patients with respective genetic defects....
10.
Ouattara A, Resseguier N, Cano A, de Lonlay P, Arnoux J, Brassier A, et al.
J Pediatr
. 2022 Oct;
254:39-47.e4.
PMID: 36265570
Objective: The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French...