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Author

Yvonne K. Kwok

2 papers indexed here

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Open access Sep 2026

FGF21 elevation is a biomarker of citrin deficiency and its metabolic dysregulation in pediatric patients.

INTRODUCTION Citrin Deficiency (CD) is an autosomal recessive metabolic disorder caused by SLC25A13 gene mutations. Fibroblast growth factor 21 (FGF21) is a hepatokine that is highly elevated in the mouse model of CD and has been implicated in pathways involving glycerol-3-phosphate (G3P) and carbohydrate response elem...

Jia-Qi Liang, V. Chu, Emily Che et al. · 0 citations
Open access Aug 2026

Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read Sequencing.

This study demonstrated an AS-based protocol optimized for non-HMW DNAs that enabled the comprehensive characterization of genomic and methylation changes, highlighting its robust performance in the genomic evaluation of X-linked genetic defects with promising broader application to other disease states.

Jia Zheng, Keying Li, Jin Han et al. · 0 citations

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