Torthaí cuardaigh - Tu, Ru‐Yi

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated wi... de réir Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Ru-Yi, Lin, Shuan-Pei, Tsai, Huai-Jen

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Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis de réir Lin, Hsiang-Yu, Lo, Yun-Ting, Wang, Tuan-Jen, Huang, Sung-Fa, Tu, Ru-Yi, Chen, Tzu-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang

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The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature de réir Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan de réir Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome de réir Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Shuan-Pei, Lin, Hsiang-Yu

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Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses de réir Lee, Chung-Lin, Lee, Kuo-Sheng, Chuang, Chih-Kuang, Su, Chin-Hui, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan de réir Lee, Chung-Lin, Lin, Shan-Miao, Chen, Ming-Ren, Chuang, Chih-Kuang, Syu, Yu-Min, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II) de réir Lin, Hsiang-Yu, Tu, Ru-Yi, Chern, Schu-Rern, Lo, Yun-Ting, Fran, Sisca, Wei, Fang-Jie, Huang, Sung-Fa, Tsai, Shin-Yu, Chang, Ya-Hui, Lee, Chung-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang

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An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan de réir Lin, Hsiang-Yu, Lee, Chung-Lin, Lo, Yun-Ting, Tu, Ru-Yi, Chang, Ya-Hui, Chang, Chia-Ying, Chiu, Pao Chin, Chang, Tung-Ming, Tsai, Wen-Hui, Niu, Dau-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei

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Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan de réir Lee, Chung-Lin, Chuang, Chih-Kuang, Tu, Ru-Yi, Chiu, Huei-Ching, Lo, Yun-Ting, Chang, Ya-Hui, Chen, Yen-Jiun, Chou, Chao-Ling, Wu, Peih-Shan, Chen, Chih-Ping, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis de réir Chuang, Chih-Kuang, Lee, Chung-Lin, Tu, Ru-Yi, Lo, Yun-Ting, Sisca, Fran, Chang, Ya-Hui, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Lin, Hsiang-Yu, Lin, Shuan-Pei

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Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan de réir 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

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Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome de réir Lin, Hsiang-Yu, Lee, Chung-Lin, Fran, Sisca, Tu, Ru-Yi, Chang, Ya-Hui, Niu, Dau-Ming, Chang, Chia-Ying, Chiu, Pao Chin, Chou, Yen-Yin, Hsiao, Hui-Pin, Yang, Chia-Feng, Tsai, Meng-Che, Chu, Tzu-Hung, Chuang, Chih-Kuang, Lin, Shuan-Pei

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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 de réir Lin, Hsiang-Yu, Chuang, Chih-Kuang, Huang, Yu-Hsiu, Tu, Ru-Yi, Lin, Fang-Ju, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Chou, Yen-Yin, Tsai, Wen-Hui, Chang, Tung-Ming, Lin, Shuan-Pei

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Functional independence of Taiwanese patients with mucopolysaccharidoses de réir Lee, Chung‐Lin, Lin, Hsiang‐Yu, Chuang, Chih‐Kuang, Chiu, Huei‐Ching, Tu, Ru‐Yi, Huang, You‐Hsin, Hwu, Wuh‐Liang, Tsai, Fuu‐Jen, Chiu, Pao‐Chin, Niu, Dau‐Ming, Chen, Yann‐Jang, Chao, Mei‐Chyn, Chang, Tung‐Ming, Lin, Ju‐Li, Chang, Chia‐Ying, Kao, Yu‐Chia, Lin, Shuan‐Pei

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Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome de réir Lin, Hsiang-Yu, Lee, Chung-Lin, Fran, Sisca, Tu, Ru-Yi, Chang, Ya-Hui, Niu, Dau-Ming, Chang, Chia-Ying, Chiu, Pao-Chin, Chou, Yen-Yin, Hsiao, Hui-Pin, Tsai, Meng-Che, Chao, Mei-Chyn, Tsai, Li-Ping, Yang, Chia-Feng, Su, Pen-Hua, Pan, Yu-Wen, Lee, Chen-Hao, Chu, Tzu-Hung, Chuang, Chih-Kuang, Lin, Shuan-Pei

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