Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
Tsai, Fang-Chih, Lee, Han-Jui, Wang, An-Guor, Hsieh, Shu-Chen, Lu, Yung-Hsiu, Lee, Ming-Che, Pai, Ju-Shan, Chu, Tzu-Hung, Yang, Chia-Feng, Hsu, Ting-Rong, Lai, Chih-Jou, Tsai, Ming-Tzu, Ho, Ping-Hsun, Lin, Min-Chieh, Cheng, Ling-Yee, Chuang, Ya-Chin, Niu, Dau-Ming
Published in Journal of the Chinese Medical Association (01.04.2017)
Published in Journal of the Chinese Medical Association (01.04.2017)
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Journal Article
AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
Pai, Ju-Shan, Chen, Ya-Chi, Hsie, Shu-Chen, Yang, Chia-Feng, Niu, Dau-Ming
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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Journal Article
AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
Chen, Ya-Chi, Hsiel, Shu-Chen, Pai, Ju-Shan, Chu, Tzu-Hung, Niu, Dau-Ming
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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Journal Article
AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inordinately high homocystinuria prevalence
Lin, Yu-Ting, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsu, Ting-Rong, Niu, Dau-Ming
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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Journal Article