Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta by Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang

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X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant by Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai

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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey by Joseph Muenzer, Hernan Amartino, Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Bianca Link, David Molter, Uma Ramaswami, Maurizio Scarpa, Jaco Botha, Jennifer Audi, Barbara K. Burton

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A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease by Yi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, Ju-Li Lin, Chih-Kuang Chuang, Jen-Daw Tsai, Nan-Chang Chiu, Hsiang-Yu Lin, Shuan-Pei Lin

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Advancements in Otorhinolaryngological Management of Mucopolysaccharidosis: A Comprehensive Review by Chung-Lin Lee, Kuo-Sheng Lee, Chih-Kuang Chuang, Chin-Hui Su, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series by Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

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Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan by Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

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Functional Independence of Taiwanese Children with Silver–Russell Syndrome by Hung-Hsiang Fang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Yen-Yin Chou, Chung-Hsing Wang, Shio-Jean Lin, Shao-Yin Chu, Chen Yang, Tsung-Ying Ou, Hsiang-Yu Lin, Shuan-Pei Lin

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Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome) by Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho

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