Sun Ah Choi
Biographic Data
| ID | 8263242 |
|---|---|
| NAME | Sun Ah Choi |
| GIVEN NAMES | Sun Ah |
| FAMILY NAME | Choi |
| SIGNATURE | CHOI S A |
| AFFILIATIONS | Ewha Womans University |
| ORCID | 0000-0001-6164-8706 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 2 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5
Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4-1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 delet…
Epidemiology and Healthcare Utilization in Pediatric Multiple Sclerosis and Neuromyelitis Optica
Pediatric multiple sclerosis (MS) and neuromyelitis optica (NMO) are rare acquired demyelinating syndrome with limited epidemiological data available, particularly in non-Western setting. This study aimed to demonstrate the epidemiology of pediatric MS and NMO in South Korea and to analyze of healthcare utilization and economic burden associated with these conditions. Using a nationwide population-based database from the Korean Health Insurance R…
No prominent works on this page.
A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5
Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4-1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 delet…
Epidemiology and Healthcare Utilization in Pediatric Multiple Sclerosis and Neuromyelitis Optica
Pediatric multiple sclerosis (MS) and neuromyelitis optica (NMO) are rare acquired demyelinating syndrome with limited epidemiological data available, particularly in non-Western setting. This study aimed to demonstrate the epidemiology of pediatric MS and NMO in South Korea and to analyze of healthcare utilization and economic burden associated with these conditions. Using a nationwide population-based database from the Korean Health Insurance R…
Medicine (2 works) · Biology (1 work) · Chromosome (1 work) · Developmental psychology (1 work) · Economic growth (1 work) · Environmental health (1 work) · Epidemiology (1 work) · Family medicine (1 work) · Gene (1 work) · Genetics (1 work)