318 results on '"Lee, Young Mock"'
Search Results
2. Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome
3. Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
4. 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
5. Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood
6. Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy
7. Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
8. Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease
9. Therapeutic outcome of patients with Lennox–Gastaut syndrome with mitochondrial respiratory chain complex I deficiency.
10. The First Report of a Korean/Vietnamese Child with Novel Pathogenic Variants in Asparagine Synthetase Deficiency (ASNSD) with Evolving Epilepsy Syndromes
11. Efficacy of High-Dose Steroid Therapy on Bilateral Total Visual Loss in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
12. Diagnosis of a Large Ependymal Cyst in a Patient with Severe Macrocephaly and No Neurological Risk Factors.
13. Jacobsen syndrome with bilateral periventricular white matter lesions
14. The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes.
15. Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood
16. Association of neuroimaging scoring and clinical status in Korean patients with metachromatic leukodystrophy
17. Magnetic resonance spectroscopy in Leigh-MELAS overlap syndrome
18. Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
19. Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
20. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome
21. Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
22. A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment
23. Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
24. A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy
25. A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness
26. Seizure outcome of infantile spasms with focal cortical dysplasia
27. Mitochondrial disease and epilepsy
28. A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1
29. Initial Nutritional Status of Patients with Mitochondrial Disease: A Retrospective Study
30. A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: A clinical and cognitive evaluation
31. Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy
32. Various indications for a modified Atkins diet in intractable childhood epilepsy
33. Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome
34. Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome
35. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome
36. Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
37. A female patient with Xp21 gene deletion syndrome
38. Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
39. Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
40. Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome
41. Jacobsen syndrome with bilateral periventricular white matter lesions
42. Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note
43. Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsy
44. Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease
45. High-Dose Prednisolone Therapy for Lennox–Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
46. Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
47. "Ecriture subversive de La Mettrie : une lecture de la “D?dicace” de L’Homme machine"
48. Ophthalmological manifestations in patients with Leigh syndrome
49. Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
50. Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.