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D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

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Parent-Reported Improvement in Seizure Control and Development After Phenylbutyrate Treatment in Children With STXBP1 and SLC6A1.

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Clinical Factors and Comorbidities Associated With Uncontrolled Seizures in Children With Epilepsy: A Nationwide Study.

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Psychiatric and medical profiles of children receiving health protection measures in a tertiary care facility: A five-year analysis.

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Predictors of parental stress in families of children with neurodevelopmental disabilities.

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Pyridoxine-dependent seizures and microcephaly

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Coarctation of the aorta and subarachnoid hemorrhage from an anterior communicating artery aneurysm in an 11-year-old: illustrative case.

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Pyridoxine-dependent seizures and microcephaly

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