The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea
The study suggests that GED-C PSS shows potential for the early diagnosis of GD, supporting its broader clinical use for both children and adults.
Authors
- Se Hee Kim (ORCID: https://orcid.org/0000-0001-7773-1942)
- Young Rok (ORCID: https://orcid.org/0000-0003-1631-1359)
- Chuhl Joo Lyu (ORCID: https://orcid.org/0000-0001-7124-7818)
- Nack‐Gyun Chung (ORCID: https://orcid.org/0000-0003-4855-390X)
- Sung-Eun Kim
- Hawk Kim (ORCID: https://orcid.org/0000-0002-2036-1466)
- Seung Min Hahn (ORCID: https://orcid.org/0000-0001-9832-6380)
- Ye Jee Shim (ORCID: https://orcid.org/0000-0002-5047-3493)
- Ho Joon Im (ORCID: https://orcid.org/0000-0001-8799-4068)
- Chung Mo Nam (ORCID: https://orcid.org/0000-0003-0985-0928)
- Jiyoung Oh (ORCID: https://orcid.org/0000-0003-3552-8465)
- Hyoung Jin Kang (ORCID: https://orcid.org/0000-0003-1009-6002)
- Min‐Seok Kim (ORCID: https://orcid.org/0009-0003-6503-8130)
- Jae Min Lee (ORCID: https://orcid.org/0000-0001-6822-1051)
- Young Jin Kim (ORCID: https://orcid.org/0000-0002-6235-6550)
- Sung‐Soo Yoon (ORCID: https://orcid.org/0000-0003-2591-7459)
- Hong Koh (ORCID: https://orcid.org/0000-0002-3660-7483)
Institutions
- Ulsan College (KR)
- Cancer Research Institute (US)
- Yonsei University (KR)
- Severance Hospital (KR)
- University Health System (US)
- Asan Medical Center (KR)
- Seoul National University Hospital (KR)
- Kyungpook National University (KR)
- University of Ulsan (KR)
- Gachon University Gil Medical Center (KR)
- Seoul National University Children's Hospital (KR)
- Keimyung University Dongsan Medical Center (KR)
- Pusan National University Yangsan Hospital (KR)
- The Catholic University of Korea Seoul St. Mary's Hospital (KR)
- Yonsei University Health System (KR)
- Pusan National University (KR)
- Keimyung University (KR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1186/s13023-025-03891-1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00