The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea
- Published on 05/01/2026
- Reading time: 3 min.
Hahn Seung Min 1,2, Kim Minseok 3, Kim Youna 4, Oh Jiyoung 1, Kim Se Hee 5, Koh Hong 1, Kim Sung-Eun 6, Chung Nack-Gyun 7, Shim Ye Jee 6, Kim Hawk 8, Lee Jae Min 9, Yoon Sung-Soo 10, Im Ho Joon 11, Kang Hyoung Jin 12, Do Young Rok 13, Nam Chung Mo 14, Lyu Chuhl Joo 1
1 https://ror.org/01wjejq96 Department of Pediatrics Yonsei University College of Medicine Seoul Republic of Korea
2 https://ror.org/04sze3c15 Department of Pediatric Hematology-Oncology, Yonsei Cancer Center, Severance Hospital Yonsei University Health System 50-1 Yonseiro, Seodaemun-gu 03722 Seoul Republic of Korea
3 https://ror.org/01wjejq96 Division of Biostatistics, Department of Biomedical Systems Informatics Yonsei University College of Medicine Seoul Republic of Korea
4 https://ror.org/04sze3c15 Academic Research Organization of Clinical Trials Center, Severance Hospital Yonsei University Health System Seoul Republic of Korea
5 https://ror.org/01wjejq96 Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Severance Children’s Hospital Yonsei University College of Medicine Seoul Republic of Korea
6 https://ror.org/040c17130 Department of Pediatrics, School of Medicine Kyungpook National University Daegu Republic of Korea
7 https://ror.org/01fpnj063 Department of Pediatrics, Catholic Hematology Hospital, Seoul St. Mary’s Hospital, College of Medicine The Catholic University of Korea Seoul Republic of Korea
8 https://ror.org/03ryywt80 Division of Hematology, Gachon University Gil Medical Center Gachon University College of Medicine Incheon Republic of Korea
9 https://ror.org/01an57a31 Department of Pediatrics, Pusan National University School of Medicine Pusan National University Children’s Hospital Yangsan-si Republic of Korea
10 https://ror.org/04h9pn542 Division of Hematology/Medical Oncology, Department of Internal Medicine, Department of Tumor Biology, Cancer Research Institute, Seoul National University Hospital Seoul National University College of Medicine Seoul Republic of Korea
11 https://ror.org/02c2f8975 Division of Pediatric Hematology/Oncology, Department of Pediatrics, Asan Medical Center Children’s Hospital University of Ulsan College of Medicine Seoul Republic of Korea
12 https://ror.org/01ks0bt75 Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Cancer Research Institute Seoul National University Children’s Hospital Seoul Republic of Korea
13 https://ror.org/00tjv0s33 Division of Hemato-Oncology, Department of Medicine, Dongsan Medical Center Keimyung University Daegu Republic of Korea
14 https://ror.org/01wjejq96 Department of Preventive Medicine Yonsei University College of Medicine Seoul Republic of Korea
Abstract
Purpose Gaucher disease (GD) is an autosomal recessive condition caused by insufficient glucocerebrosidase activity. The Gaucher Earlier Diagnosis Consensus (GED-C) initiative created a point-scoring system (PSS) to facilitate the early identification of GD based on significant indicators and covariables. This study aimed to evaluate the applicability and utility of the GED-C PSS in pediatric and young adult patients in Korea.
Results This study included...
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