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.

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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
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article

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

Se Hee Kim, Young Rok, Chuhl Joo Lyu, Nack‐Gyun Chung et al.
Orphanet Journal of Rare Diseases
Lysosomal Storage Disorders Research
article

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

Se Hee Kim, Young Rok, Chuhl Joo Lyu, Nack‐Gyun Chung, Sung-Eun Kim, Hawk Kim, Seung Min Hahn, Ye Jee Shim, Ho Joon Im, Chung Mo Nam, Jiyoung Oh, Hyoung Jin Kang, Min‐Seok Kim, Jae Min Lee, Young Jin Kim, Sung‐Soo Yoon, Hong Koh
article en

Abstract

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.

Orphanet Journal of Rare DiseasesVol. 20(1)
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)
Openalex Percentile: Top 59%
Lysosomal Storage Disorders Research
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