Showing results (991-1000 of 4,287) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|February 15, 2025
Emergency Management of Intoxication-Type Inherited Metabolic DisordersJ Dexter Tarr, Andrew A M MorrisJournal of Inherited Metabolic Disease|December 16, 2024
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countriesAnibh M Das, Diana Ballhausen, Dorothea Haas, et al.Journal of Inherited Metabolic Disease|February 6, 2025
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment OutcomesFatma Ilgaz, Alexander Höller, Cyril Marsaux, et al.Journal of Inherited Metabolic Disease|January 22, 2025
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking DisordersYaiza Díaz-Osorio, Helena Gimeno-Agud, Rosanna Mari-Vico, et al.Journal of Inherited Metabolic Disease|January 8, 2025
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase DeficiencyBarbara Siri, Benedetta Greco, Diego Martinelli, et al.Journal of Inherited Metabolic Disease|March 10, 2025
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)David A Weinstein, Terry G Derks, David F Rodriguez-Buritica, et al.Journal of Inherited Metabolic Disease|January 17, 2025
Unifying biology of neurodegeneration in lysosomal storage diseasesAnna M Ludlaim, Simon N Waddington, Tristan R McKayJournal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.Journal of Inherited Metabolic Disease|March 2, 2025
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic NeurotransmissionA Santos-Gómez, N Juliá-Palacios, A Rejano-Bosch, et al.Journal of Inherited Metabolic Disease|December 11, 2024
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine diseaseJuan Ramón Tejedor, Alejandro Soriano-Sexto, Leonardo Beccari, et al.Pageof 429