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Author

Yin-Hsiu Chien

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3 papers indexed here

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Open access Sep 2026

Automated machine learning-Assisted interpretation of GC-MS urinary organic acid profiles by integrating explicit metabolic markers and chromatographic patterns for rare organic acidemias.

Organic acidemias (OAs) are inherited metabolic disorders requiring accurate profiling of urinary organic acids for diagnosis. Although gas chromatography-mass spectrometry (GC-MS) remains a clinical standard, interpretation is challenging because urinary metabolic profiles are complex and heterogeneous, reflecting dis...

Chin-Hsiang Ma, Y. Jair, Ju-Yu Chen et al. · 0 citations
Review Open access Sep 2026

Consensus on gene therapy for spinal muscular atrophy in Taiwan.

The Taiwan Child Neurology Society convened 17 pediatricians with extensive clinical experience in SMA to establish a consensus on gene therapy for SMA in Taiwan, and recommends incorporating SMA into the newborn screening program and emphasizes that gene therapy should be evaluated based on SMN2 copy number and clinic...

Yuh-Jyh Jong, Yin-Hsiu Chien, Wen-Chen Liang et al. · 0 citations
Open access Sep 2026

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease

The findings suggest a potential increased frequency of seizures in classic infantile Pompe disease in comparison with unaffected children, occurring predominantly after the age of 7, and that epilepsy is part of the CNS phenotype.

M. C. Faraguna, Alexander Broomfield, S. Gasperini et al. · 0 citations

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