The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.

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Title: The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.
Authors: Hahn SM; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea.; Department of Pediatric Hematology-Oncology, Yonsei Cancer Center, Severance Hospital, Yonsei University Health System, 50-1 Yonseiro, Seodaemun-gu, Seoul, 03722, Republic of Korea., Kim M; Division of Biostatistics, Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim Y; Academic Research Organization of Clinical Trials Center, Severance Hospital, Yonsei University Health System, Seoul, Republic of Korea., Oh J; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim SH; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea., Koh H; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim SE; Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, Republic of Korea., Chung NG; Department of Pediatrics, Catholic Hematology Hospital, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea., Shim YJ; Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, Republic of Korea., Kim H; Division of Hematology, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea., Lee JM; Department of Pediatrics, Pusan National University School of Medicine, Pusan National University Children's Hospital, Yangsan-si, Republic of Korea., Yoon SS; 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., Im HJ; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kang HJ; 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., Do YR; Division of Hemato-Oncology, Department of Medicine, Dongsan Medical Center, Keimyung University, Daegu, Republic of Korea., Nam CM; Department of Preventive Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea., Lyu CJ; Department of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of Korea. CJ@yuhs.ac.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 10; Vol. 20 (1), pp. 569. Date of Electronic Publication: 2025 Nov 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1750-1172
DOI:10.1186/s13023-025-03891-1