2024 | Development and Validation of a Prediction Model Using Sella Magnetic Resonance Imaging–Based Radiomics and Clinical Parameters for the Diagnosis of Growth Hormone Deficiency and Idiopathic Short Stature: Cross-Sectional, Multicenter Study
| JOURNAL OF MEDICAL INTERNET RESEARCH |
2024 | Association between Neuroimaging Scores and Clinical Status in Pediatric Patients Diagnosed with Metachromatic Leukodystrophy
| Annals of Child Neurology |
2024 | Diagnosis of a Large Ependymal Cyst in a Patient with Severe Macrocephaly and No Neurological Risk Factors
| Annals of Child Neurology |
2024 | Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome | INDIAN JOURNAL OF PEDIATRICS |
2024 | Application and Effectiveness of Dietary Therapies for Pediatric Migraine
| Headache and Pain Research |
2024 | Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency
| FRONTIERS IN NEUROLOGY |
2024 | Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood | INDIAN JOURNAL OF PEDIATRICS |
2024 | Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
| Annals of Child Neurology |
2024 | Effects of the coronavirus disease outbreak on the development of neurological disorders in children: A comparison of the incidence of febrile seizure and epilepsy using an interrupted time-series approach
| JOURNAL OF INFECTION AND PUBLIC HEALTH |
2024 | The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2023 | Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
| YONSEI MEDICAL JOURNAL |
2023 | Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
| JOURNAL OF CLINICAL NEUROLOGY |
2023 | Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy | INDIAN JOURNAL OF PEDIATRICS |
2023 | Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
| Clinical Nutrition Research |
2023 | IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
2023 | 멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
2023 | Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea | WORLD JOURNAL OF PEDIATRICS |
2023 | A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment
| Annals of Child Neurology |
2023 | The Efficacy of Lacosamide in Children with Drug-Resistant Epilepsy: Three Cases in Pediatric Patients
| Annals of Child Neurology |
2023 | Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome | PEDIATRIC NEUROLOGY |
2022 | A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness
| Annals of Child Neurology |
2022 | A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy
| Annals of Child Neurology |
2022 | Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches
| THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS |
2022 | A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1
| Annals of Child Neurology |
2022 | Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
| THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS |
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 |