| 2022 | Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome | CLINICAL GENETICS |
| 2022 | Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome | ACTA NEUROLOGICA SCANDINAVICA |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2022 | High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
| Annals of Child Neurology |
| 2022 | Unilateral and Reversible Hypoglossal Nerve Palsy Due to Infectious Mononucleosis
| Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
| Annals of Child Neurology |
| 2022 | Efficacy and prognosis of long-term, high-dose steroid therapy for Lennox-Gastaut syndrome | EPILEPSY RESEARCH |
| 2021 | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
| FRONTIERS IN NEUROLOGY |
| 2021 | A female patient with Xp21 gene deletion syndrome
| Journal of Genetic Medicine(대한의학유전학회지) |
| 2021 | Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| Annals of Child Neurology |
| 2021 | Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease | EUROPEAN JOURNAL OF PEDIATRICS |
| 2020 | Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome | EUROPEAN JOURNAL OF ENDOCRINOLOGY |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2020 | Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
| Therapeutic Advances in Neurological Disorders |
| 2019 | Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
| Frontiers in Neurology |
| 2019 | Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
| Korean Journal of Pediatrics |
| 2019 | Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics
| JOURNAL OF CLINICAL NEUROLOGY |
| 2019 | Utilization of Coronary Artery to Aorta for the Early Detection of Kawasaki Disease | PEDIATRIC CARDIOLOGY |
| 2018 | 미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교
| Journal of the Korean Child Neurology Society |
| 2018 | Ophthalmoplegia in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2014 | The clinical significance of serum ferritin in pediatric non-alcoholic Fatty liver disease
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
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