126 results on '"Lee, Young Mock"'
Search Results
2. A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS
3. 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
4. Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
5. The First Report of a Korean/Vietnamese Child with Novel Pathogenic Variants in Asparagine Synthetase Deficiency (ASNSD) with Evolving Epilepsy Syndromes
6. Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
7. Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood
8. Association of neuroimaging scoring and clinical status in Korean patients with metachromatic leukodystrophy
9. Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
10. Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
11. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome
12. Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
13. A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment
14. Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
15. A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy
16. A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness
17. A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1
18. Initial Nutritional Status of Patients with Mitochondrial Disease: A Retrospective Study
19. Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome
20. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome
21. Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
22. A female patient with Xp21 gene deletion syndrome
23. Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
24. Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
25. Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome
26. Jacobsen syndrome with bilateral periventricular white matter lesions
27. Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease
28. High-Dose Prednisolone Therapy for Lennox–Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
29. Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
30. "Ecriture subversive de La Mettrie : une lecture de la “D?dicace” de L’Homme machine"
31. Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
32. Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants
33. Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch
34. FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia
35. DYNC2H1 variants cause Leber congenital amaurosis without syndromic features
36. Use of heteroplasmy rates for determining MELAS phenotype: a reply
37. Epidemiological Features and Economic Burden of Guillain-Barré Syndrome in South Korea: A Nationwide Population-Based Study
38. A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
39. Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome
40. Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4
41. Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease
42. Incidence of Guillain-Barré Syndrome Is Not Associated with Influenza Vaccination in the Elderly
43. Difficulties in the Treatment and Perceptions of Mental Health Service Interventions by Caregivers for Those with Pediatric Chronic Intractable Diseases
44. Ecriture audacieuse - une lecture du Discours Préliminaire de La Mettrie
45. Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome
46. Causality Assessment Guidelines for Adverse Events Following Immunization with a Focus on Guillain–Barré Syndrome
47. Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
48. Mass screening for kidney disease in children – should it be done? If so, when?
49. La notion de ‘philosophie locale’ et ses avatars chez Diderot
50. Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
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