Browsing by Yonsei Author : Lee, Young Mock

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Name:
Lee, Young Mock [이영목]
orcid http://orcid.org/0000-0002-5838-249X
Department :
College of Medicine (의과대학) - Dept. of Pediatrics (소아과학교실)
Scopus ID :
Scopus (36013360400)

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Issue DateTitleJournal Title
2022Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndromeCLINICAL GENETICS
2022Genotype-phenotype analysis of MT-ATP6-associated Leigh syndromeACTA NEUROLOGICA SCANDINAVICA
2022Jacobsen syndrome with bilateral periventricular white matter lesionsWORLD JOURNAL OF PEDIATRICS
2022High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy Annals of Child Neurology
2022Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome Annals of Child Neurology
2021Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation FRONTIERS IN NEUROLOGY
2021A female patient with Xp21 gene deletion syndrome Journal of Genetic Medicine(대한의학유전학회지)
2021Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease FRONTIERS IN PEDIATRICS
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2021Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Annals of Child Neurology
2021Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report CHILDREN-BASEL
2021Epidemiological Features and Economic Burden of Guillain-Barré Syndrome in South Korea: A Nationwide Population-Based Study JOURNAL OF CLINICAL NEUROLOGY
2021Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch Annals of Child Neurology
2021Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants Annals of Child Neurology
2021FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia Annals of Child Neurology
2021Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial diseaseEUROPEAN JOURNAL OF PEDIATRICS
2020A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene Journal of Genetic Medicine(대한의학유전학회지)
2020EPG5 유전자 변이가 확인된 Vici 증후군 1례 Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)
2020Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndromeEUROPEAN JOURNAL OF ENDOCRINOLOGY
2020Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4 CHILDREN-BASEL
2020Incidence of Guillain-Barré Syndrome is not Associated with Influenza Vaccination in the Elderly VACCINES
2020소아기 만성 난치성 질환 환아 보호자의 치료과정에서의 어려움과 정신건강 서비스에 대한 인식 Korean Journal of Infant Mental Health (영유아아동정신건강연구)
2020Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome FRONTIERS IN NEUROLOGY
2020Causality Assessment Guidelines for Adverse Events Following Immunization With a Focus on Guillain-Barré Syndrome VACCINES
2020Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction Therapeutic Advances in Neurological Disorders
2019Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs DIAGNOSTICS
2019Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesJournal of Inherited Metabolic Disease
2019Magnetic resonance spectroscopy in Leigh-MELAS overlap syndromeWorld Journal of Pediatrics
2019Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations Frontiers in Neurology
2019Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1 Korean Journal of Pediatrics
2019Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics JOURNAL OF CLINICAL NEUROLOGY
2019The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes YONSEI MEDICAL JOURNAL
2019Lennox-Gastaut Syndrome in Mitochondrial Disease YONSEI MEDICAL JOURNAL
2018진행성 양측 백내장이 동반된 미토콘드리아 질환 1례 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2018Integrated diagnostic approach of pediatric neuromuscular disorders Journal of Genetic Medicine (대한의학유전학회지)
2018신경질환에서 정맥주사용 면역글로불린 치료의 임상적 이용 Journal of the Korean Child Neurology Society
2018미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석 Journal of the Korean Child Neurology Society
2018미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교 Journal of the Korean Child Neurology Society
2018Ophthalmoplegia in Mitochondrial Disease YONSEI MEDICAL JOURNAL
2018Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut SyndromePEDIATRICS
2018KL1333, a Novel NAD+ Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS FibroblastsFRONTIERS IN NEUROLOGY
2018Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G MutationFRONTIERS IN NEUROLOGY
2018Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy JOURNAL OF CLINICAL NEUROLOGY
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
2018Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease YONSEI MEDICAL JOURNAL
2018Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations JOURNAL OF CLINICAL NEUROLOGY
2018Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary noteJOURNAL OF INHERITED METABOLIC DISEASE
2017미토콘드리아 질환 소아 환자 보호자에서의 질환 인식 및 정서변화 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2017Enteral Tube Feeding in Paediatric Mitochondrial Diseases SCIENTIFIC REPORTS
2017Fukuyama 선천성 근이영양증에서의 분자유전학적 분석 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)

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