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Chung Lin Lee

As seen in: BioRxiv
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Articles

Functional Independence Assessment in Children, Adolescents, and Young Adults with Achondroplasia: A Multicenter Cross-sectional Study Using the WeeFIM Scale

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By Chung Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, Dau-Ming Niu
| preprints.org
This version is not peer-reviewed.
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Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies

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By Yu-Ying Lu, Yu-Ting Chiang, Chung Lin Lee, Pei-Sin Chen
| BioRxiv
Abstract Background: Fabry disease (FD) is a lysosomal storage disorder impacting multiple organs, including the heart. We investigated whether early-stage globotriaosylceramide (Gb3) accumulation, before occurrence of inclusion bodies, could cause significant stress and irreversible damages of the cardiomyocytes in FD patients. To assess the cellular stress and irreversible damage of cardiomyocytes in FD during early-stage Gb3 accumulation before the occurrence of typical pathology.
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Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem Involvement

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By Chung Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang
| preprints.org
1. Introduction Geleophysic dysplasia is an ultra-rare autosomal recessive skeletal dysplasia characterized by severe short stature, progressive joint contractures, distinctive facial features, and life-threatening cardiac complications [1]. The condition derives its name from the Greek words "geleos" (happy) and "physis" (nature), reflecting the characteristic pleasant facial expression observed in affected individuals [2].
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