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The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine
Abstract Epilepsy is a diverse and often severe neurological disorder characterized by frequent and unpredictable seizures caused by the simultaneous discharge of brain cells in one or both hemispheres. Recently, there has been a significant shift in the approach to healthcare, moving from a standardized model to a more personalized and targeted model. This transformation has been made possible by advances in pharmacogenomics.
Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report - BMC Pediatrics
References Braverman NE, D’Agostino MD, MacLean GE. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev [Internet]. 2013 Jun [cited 2024 May 31];17(3):187–96. https://onlinelibrary.wiley.com/doi/https://doi.org/10.1002/ddrr.1113 Lee W, Costain G, Blaser S, Walker S, Marshall CR, Gonorazky H et al. Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.
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