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	1.	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. [electronic resource] by Hsu, Rai-Hseng Chien, Yin-Hsiu Hwu, Wuh-Liang Chang, I-Fan Ho, Hui-Chen Chou, Shi-Ping Huang, Tzu-Ming Lee, Ni-Chung Producer: 20190506 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Fatty Acid oxidation disorders in a chinese population in taiwan. [electronic resource] by Chien, Yin-Hsiu Lee, Ni-Chung Chao, Mei-Chyn Chen, Li-Chu Chen, Li-Hsin Chien, Chun-Ching Ho, Hui-Chen Suen, Jeng-Hung Hwu, Wuh-Liang Producer: 20130827 In: JIMD reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. [electronic resource] by Niu, Dau-Ming Chien, Yin-Hsiu Chiang, Chuan-Chi Ho, Hui-Chen Hwu, Wuh-Liang Kao, Shu-Min Chiang, Szu-Hui Kao, Chuan-Hong Liu, Tze-Tze Chiang, Hung Hsiao, Kwang-Jen Producer: 20110207 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Very rare condition of multiple Gaucheroma: A case report and review of the literature. [electronic resource] by Tseng, Szu-Yin Niu, Dau-Ming Chu, Tzu-Hung Yeh, Yi-Chen Huang, Man-Hsu Yang, Tsui-Feng Liao, Hsuan-Chieh Chiang, Chuan-Chi Ho, Hui-Chen Soong, Wen-Jue Yang, Chia-Feng Publication details: Molecular genetics and metabolism reports Sep 2019 In: Molecular genetics and metabolism reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Very rare condition of multiple Gaucheroma: A case report and review of the literature. [electronic resource] by Tseng, Szu-Yin Niu, Dau-Ming Chu, Tzu-Hung Yeh, Yi-Chen Huang, Man-Hsu Yang, Tsui-Feng Liao, Hsuan-Chieh Chiang, Chuan-Chi Ho, Hui-Chen Soong, Wen-Jue Yang, Chia-Feng Publication details: Molecular genetics and metabolism reports Sep 2019 In: Molecular genetics and metabolism reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. [electronic resource] by Yang, Chia-Feng Liu, Hao-Chuan Hsu, Ting-Rong Tsai, Fang-Chih Chiang, Sheng-Fong Chiang, Chuan-Chi Ho, Hui-Chen Lai, Chih-Jou Yang, Tsui-Feng Chuang, Sung-Yin Lin, Ching-Yuang Niu, Dau-Ming Producer: 20150413 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. [electronic resource] by Yang, Chia-Feng Yang, Chen Chang Liao, Hsuan-Chieh Huang, Ling-Yi Chiang, Chuan-Chi Ho, Hui-Chen Lai, Chih-Jou Chu, Tzu-Hung Yang, Tsui-Feng Hsu, Ting-Rong Soong, Wen-Jue Niu, Dau-Ming Producer: 20160606 In: The Journal of pediatrics vol. 169 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei. [electronic resource] by Tsao, Pei-Chen Shiau, Yu-Shih Chiang, Szu-Hui Ho, Hui-Chen Liu, Yu-Ling Chung, Yuan-Fang Lin, Li-Ju Chen, Ming-Ren Chang, Jia-Kan Soong, Wen-Jue Lin, Hsiu-Lian Hwang, Betau Hsiao, Kwang-Jen Producer: 20160830 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. [electronic resource] by Chuang, Chih-Kuang Lin, Hsiang-Yu Wang, Tuan-Jen Huang, You-Hsin Chan, Min-Ju Liao, Hsuan-Chieh Lo, Yun-Ting Wang, Li-Yun Tu, Ru-Yi Fang, Yi-Ya Chen, Tzu-Lin Ho, Hui-Chen Chiang, Chuan-Chi Lin, Shuan-Pei Producer: 20190415 In: Orphanet journal of rare diseases vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry. [electronic resource] by Lu, Yung-Hsiu Huang, Po-Hsun Wang, Li-Yun Hsu, Ting-Rong Li, Hsing-Yuan Lee, Pi-Chang Hsieh, Yu-Ping Hung, Sheng-Che Wang, Yu-Chen Chang, Sheng-Kai Lee, Ya-Ting Ho, Ping-Hsun Ho, Hui-Chen Niu, Dau-Ming Producer: 20180726 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	The universal newborn hearing screening program of Taipei City. [electronic resource] by Huang, Hung-Meng Chiang, Szu-Hui Shiau, Yu-Shih Yeh, Wen-Ying Ho, Hui Chen Wang, Lilly Chen, Shou-Chen Lin, Hung-Ching Chen, Kwang-Chao Chiang, Hung Yang, Ming-Chuan Yu, Li-Hui Lin, Hsiu-Lian Chiu, Allen Wen-Hsiang Hsiao, Kwang-Jen Producer: 20140520 In: International journal of pediatric otorhinolaryngology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. [electronic resource] by Hsu, Ting-Rong Hung, Sheng-Che Chang, Fu-Pang Yu, Wen-Chung Sung, Shih-Hsien Hsu, Chia-Lin Dzhagalov, Ivan Yang, Chia-Feng Chu, Tzu-Hung Lee, Han-Jui Lu, Yung-Hsiu Chang, Sheng-Kai Liao, Hsuan-Chieh Lin, Hsiang-Yu Liao, Tsan-Chieh Lee, Pi-Chang Li, Hsing-Yuan Yang, An-Hang Ho, Hui-Chen Chiang, Chuan-Chi Lin, Ching-Yuang Desnick, Robert J Niu, Dau-Ming Producer: 20170630 In: Journal of the American College of Cardiology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)