Showing 1 - 20 results of 33 for search 'Chih‐Kuang Chuang', query time: 0.06s Refine Results
  1. 1
    Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man

    Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man by Hsiang-Yu Lin, Chi-In Lo, Chih-Kuang Chuang, Shuan-Pei Lin

    Published 2015-10-01
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  2. 2
    Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta

    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

    Published 2008-10-01
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  3. 3
    Clinical Features of Osteogenesis Imperfecta in Taiwan

    Clinical Features of Osteogenesis Imperfecta in Taiwan by Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang, Dau-Ming Niu

    Published 2009-07-01
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  4. 4
    Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome

    Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome by Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chi-Yu Huang, Dau-Ming Niu, Shuan-Pei Lin

    Published 2011-11-01
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  5. 5
    Effect of Mutated <i>ids</i> Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

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

    Published 2020-10-01
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  6. 6
    Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

    Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA by Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin

    Published 2018-08-01
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  7. 7
    Comparison of free fatty acid content of human milk from Taiwanese mothers and infant formula

    Comparison of free fatty acid content of human milk from Taiwanese mothers and infant formula by Chih-Kuang Chuang, Chun-Yan Yeung, Wai-Tim Jim, Shuan-Pei Lin, Tuen-Jen Wang, Sung-Fa Huang, Hsuan-Liang Liu

    Published 2013-12-01
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  8. 8
    Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case

    Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

    Published 2025-02-01
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  9. 9
    Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

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

    Published 2021-10-01
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  10. 10
    The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

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

    Published 2021-06-01
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  11. 11
    Indoxyl Sulfate, Not P-Cresyl Sulfate, is Associated with Advanced Glycation end Products in Patients on Long-Term Hemodialysis

    Indoxyl Sulfate, Not P-Cresyl Sulfate, is Associated with Advanced Glycation end Products in Patients on Long-Term Hemodialysis by Cheng-Jui Lin, Jackson Lin, Chi-Feng Pan, Chih-Kuang Chuang, Hsuan-Liang Liu, Fang-Ju Sun, Tuan-Jen Wang, Han-Hsiang Chen, Chih-Jen Wu

    Published 2015-03-01
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  12. 12
    Overexpression of Akt1 enhances adipogenesis and leads to lipoma formation in zebrafish.

    Overexpression of Akt1 enhances adipogenesis and leads to lipoma formation in zebrafish. by Che-Yu Chu, Chi-Fang Chen, R Samuel Rajendran, Chia-Ning Shen, Te-Hao Chen, Chueh-Chuan Yen, Chih-Kuang Chuang, Dar-Shong Lin, Chung-Der Hsiao

    Published 2012-01-01
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  13. 13
    Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome

    Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome by Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

    Published 2022-06-01
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  14. 14
    A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease

    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

    Published 2017-02-01
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  15. 15
    Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

    Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy by Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

    Published 2020-12-01
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  16. 16
    Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II

    Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II by Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

    Published 2021-02-01
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  17. 17
    Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome

    Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

    Published 2024-08-01
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  18. 18
    Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

    Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

    Published 2024-04-01
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  19. 19
    Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

    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

    Published 2024-12-01
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  20. 20
    Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan

    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

    Published 2019-08-01
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