A5013984842- Streptococcal Infections and Treatments
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Cellular transport and secretion
- Cytomegalovirus and herpesvirus research
- Helicobacter pylori-related gastroenterology studies
- Neonatal and Maternal Infections
- RNA modifications and cancer
- Epilepsy research and treatment
- Long-Term Effects of COVID-19
- Lipid Membrane Structure and Behavior
- SARS-CoV-2 and COVID-19 Research
- Congenital Heart Disease Studies
- Microtubule and mitosis dynamics
- Complement system in diseases
- Central Venous Catheters and Hemodialysis
- Neuroscience and Neuropharmacology Research
- Pediatric Urology and Nephrology Studies
- Fetal and Pediatric Neurological Disorders
- COVID-19 Clinical Research Studies
- RNA Research and Splicing
- Adenosine and Purinergic Signaling
- Infections and bacterial resistance
Seoul National University Children's Hospital
2021-2024
Seoul National University Hospital
2023
Seoul National University Bundang Hospital
2021-2023
Yonsei University
2014
Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with wide spectrum brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra tubulinopathy within Korean pediatric population. Methods: Among individuals who underwent testing at neurology clinic between June 2011 December 2021, 15 patients gene were retrospectively recruited. Clinical features, information, imaging findings...
The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with from a longitudinal aspect. Clinical data, profiles, electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels whole-exome sequencing. All exhibited global developmental delay early infancy, motor development eventually reaching independent ambulation by 3 years age. Language varied significantly...
Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by complement dysregulation that may involve the extra-renal system. Without appropriate prophylactic treatment, aHUS commonly recur after kidney transplantation (KT). In contrast, cytomegalovirus (CMV) infection common in KT recipients and affect various organ systems. Herein, we report case of recurrent complicated CMV enteritis. This 17-year-old recipient with having CFH mutation was admitted to hospital for gastric pain...