AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases.
Despite advances in molecular diagnosis, empirical vitamin and cofactor supplementation remains frequently used in patients with PMDs who lack established gene- or pathway-specific therapeutic options, and this findings underscore the persistent gap between molecular diagnosis and evidence-based therapy.
A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy.
PED is a clinical feature not previously reported in PEBEL1 cases, and the case expands the phenotypic spectrum of this disorder and highlights that KD may be a treatment option in PEBEL1.