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Journal of Inherited Metabolic Disease|August 22, 2023
Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture modelsMiroslava Didiasova, Antje Banning, Ritva TikkanenJournal of Inherited Metabolic Disease|October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiencyLaura A Adang, Samar Mowafy, Zackary M Herbst, et al.Journal of Inherited Metabolic Disease|September 25, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disordersPeter J Wegwerth, Amy L White, Stephanie D Stoway, et al.Journal of Inherited Metabolic Disease|July 19, 2023
CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-IaAnanya Samanta, Nelson George, Irina Arnaoutova, et al.Journal of Inherited Metabolic Disease|July 3, 2023
Clinical presentation of 13 children with alkaptonuriaMariusz J Kujawa, Dominik Świętoń, Jolanta Wierzba, et al.Journal of Inherited Metabolic Disease|July 6, 2023
Disease models of mitochondrial aminoacyl-tRNA synthetase defectsHenna TyynismaaJournal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.Journal of Inherited Metabolic Disease|July 8, 2023
Gene therapy for glycogen storage diseasesDwight D Koeberl, Rebecca L Koch, Jeong-A Lim, et al.Journal of Inherited Metabolic Disease|July 10, 2023
On pathways and blind alleys-The importance of biomarkers in vitamin B6 -dependent epilepsiesBarbara PleckoJournal of Inherited Metabolic Disease|June 23, 2023
Exercise testing and prescription in patients with inborn errors of muscle energy metabolismKiera Batten, Kaustuv Bhattacharya, David Simar, et al.Pageof 429