Magalie Barth
Angers, 49333, France
Last Updated: 09/26/2026
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Found 94 publications
Feasibility and Safety of a Ketogenic Diet During Systemic Therapy for Metastatic Renal Cell Carcinoma: Results from the Cetorein Pilot Study.
Journal: Nutrients
Published: April 23, 2026
Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations.
Journal: Molecular genetics and metabolism
Published: April 02, 2026
Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.
Journal: American journal of human genetics
Published: February 06, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.
Journal: International journal of neonatal screening
Published: May 08, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Journal: Journal of inherited metabolic disease
Published: April 08, 2025
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.
Journal: Molecular genetics and metabolism reports
Published: January 30, 2025
Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study.
Journal: Orphanet journal of rare diseases
Published: December 11, 2024
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Journal: The Lancet. Neurology
Published: September 04, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2024
Last Updated: 09/26/2026