José Manuel Horcas Nieto

191 6 iPSC-derived liver organoids as a tool to study Medium Chain Acyl-CoA Dehydrogenase deficienc REFERENCES 1. Jager, E. A. et al. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. J Inherit Metab Dis 42, 890–897 (2019). 2. Touw, C. M. et al. In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. Orphanet J Rare Dis 8, (2013). 3. Derks, T. G. J. et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome. Journal of Pediatrics 148, (2006). 4. Touw, C. M. L. et al. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: Data from a cohort study. Orphanet J Rare Dis 7, (2012). 5. Wilson, C. J., Champion, M. P., Collins, J. E., Clayton, P. T. & Leonard, J. V. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child 80, 459–462 (1999). 6. Mason, E., Hindmarch, C. C. T. & Dunham-Snary, K. J. Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment. Endocrinol Diabetes Metab 6, (2023). 7. Smith, E. H. et al. Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab 100, 241–250 (2010). 8. Arnold, G. L. et al. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab 99, 263–268 (2010). 9. Argmann, C. A., Houten, S. M., Zhu, J. & Schadt, E. E. A Next Generation Multiscale View of Inborn Errors of Metabolism. Cell Metab 23, 13–26 (2016). 10. Martines, A. C. M. F. et al. Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice. Sci Rep 9, (2019). 11. Tolwani, R. J. et al. Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genet 1, 0205–0212 (2005). 12. Karunanidhi, A. et al. Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 140, (2023). 13. Chegary, M. et al. Mitochondrial long chain fatty acid β-oxidation in man and mouse. Biochim Biophys Acta Mol Cell Biol Lipids 1791, 806–815 (2009). 14. Kretzschmar, K. & Clevers, H. Organoids: Modeling Development and the Stem Cell Niche in a Dish. Developmental Cell vol. 38 590–600 Preprint at https://doi.org/10.1016/j. devcel.2016.08.014 (2016). 15. Huch, M. et al. Long-term culture of genome-stable bipotent stem cells from adult human liver. Cell 160, 299–312 (2015). 16. Sato, T. et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature 459, 262–265 (2009).

RkJQdWJsaXNoZXIy MTk4NDMw