Alice Kuster
Nantes, France
Last Updated: 09/26/2026
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Found 42 publications
Antenatal N-acetylcysteine supplementation in pregnant women with impending preterm birth: a prospective randomized placebo-controlled trial.
Journal: Pediatric research
Published: October 13, 2025
Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.
Journal: Molecular genetics and metabolism
Published: September 18, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Journal: Genetic testing and molecular biomarkers
Published: January 22, 2025
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.
Journal: Journal of neurology
Published: September 18, 2024
Bone mineral density in French adults with early-treated phenylketonuria.
Journal: Molecular genetics and metabolism
Published: August 21, 2024
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Journal: International journal of cardiology
Published: June 25, 2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Journal: Molecular genetics and metabolism
Published: April 29, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Journal: Hepatology (Baltimore, Md.)
Published: March 17, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Journal: European journal of neurology
Published: January 05, 2023
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Journal: Redox biology
Published: September 30, 2022
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Journal: Orphanet journal of rare diseases
Published: July 01, 2022
Last Updated: 09/26/2026