Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Neurology. Genetics|January 26, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron RegulationSebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.
Annales De Biologie Clinique|February 23, 2024
Biomarkers for the diagnosis and monitoring of nitrous oxide intoxication: objectives and methodology of the SFBC Working GroupDamien Denimal, Stéphanie Badiou, Justine Blin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 23, 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findingsGabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, et al.
Journal of Inherited Metabolic Disease|December 9, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disordersApolline Imbard, Hortense de Calbiac, Edouard Le Guillou, et al.
Journal of Inherited Metabolic Disease|February 13, 2026
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From ParisAurélie de Bruyne, Apolline Imbard, Charles-Joris Roux, et al.
Autophagy Reports|December 26, 2024
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioningHortense de Calbiac, Sebastian Montealegre, Marjolène Straube, et al.
Molecular Genetics and Metabolism|August 20, 2025
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective studyJulien Maquet, Clément Pontoizeau, Apolline Imbard, et al.
Molecular Genetics and Metabolism|January 14, 2024
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort studyKanetee Busiah, Célina Roda, Anne-Sophie Crosnier, et al.
Annals of Neurology|January 13, 2019
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulationJoseph P Dewulf, Elsa Wiame, Imen Dorboz, et al.
Journal of Inherited Metabolic Disease|December 4, 2025
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?Diane Margoses, Apolline Imbard, Clément Pontoizeau, et al.
Pageof 5