Hasil Pencarian - Dau‐Ming Niu

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  1. 1
    Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

    Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature oleh Wei-Yu Chen, Dau-Ming Niu, Li-Zhen Chen, Chia-Feng Yang

    Diterbitkan 2021-12-01
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  2. 2
    Clinical Features of Ehlers-Danlos Syndrome

    Clinical Features of Ehlers-Danlos Syndrome oleh Jui-Lung Yen, Shuan-Pei Lin, Ming-Ren Chen, Dau-Ming Niu

    Diterbitkan 2006-01-01
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  3. 3
    Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function

    Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved... oleh Meng-Chen Liu, Ming-Tse Wang, Philip Kuo-Ting Chen, Dau-Ming Niu, Dau-Ming Niu, Yu-Hsuan Fan Chiang, Ming-Hui Hsieh, Hsiao-Chien Tsai, Hsiao-Chien Tsai, Hsiao-Chien Tsai

    Diterbitkan 2021-12-01
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  4. 4
    Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay

    Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay oleh Yu-Chi Wang, Dau-Ming Niu, Li-Zhen Chen, Yun-Ru Chen, Chia-Feng Yang

    Diterbitkan 2024-06-01
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  5. 5
    Clinical Features of Osteogenesis Imperfecta in Taiwan

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

    Diterbitkan 2009-07-01
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  6. 6
    KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review

    KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review oleh Jing-Er Chen, Yun-Ru Chen, Hsin-Hui Wang, Dau-Ming Niu, Yen-Fu Cheng, Yann-Jang Chen

    Diterbitkan 2023-01-01
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  7. 7
    Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome

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

    Diterbitkan 2011-11-01
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  8. 8
    Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia

    Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia oleh Pen-Hua Su, Jia-Yuh Chen, Yung-Jung Chen, Dau-Ming Niu, Ju-Hui Hsu, Inn-Chi Lee

    Diterbitkan 2014-11-01
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  9. 9
    Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature

    Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature oleh Chih-Hsuan Lu, Chia-Feng Yang, Yun-Ru Chen, Yann-Jang Chen, Yung-Hsiu Lu, Dau-Ming Niu

    Diterbitkan 2024-12-01
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  10. 10
    Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

    Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. oleh Wen-Hsin Chang, Dau-Ming Niu, Chi-Yu Lu, Shyr-Yi Lin, Ta-Chih Liu, Jan-Gowth Chang

    Diterbitkan 2017-01-01
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  11. 11
    Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

    Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey oleh Ting-Rong Hsu, Fu-Pang Chang, Tzu-Hung Chu, Shih-Hsien Sung, Svetlana Bizjajeva, Wen-Chung Yu, Dau-Ming Niu

    Diterbitkan 2017-01-01
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  12. 12
    Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases

    Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases oleh Jen-Chung Chien, Dau-Ming Niu, Mao-Shan Wang, Ming-Tzen Liu, Jiing-Feng Lirng, Shu-Jen Chen, Betau Hwang

    Diterbitkan 2010-02-01
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  13. 13
    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 oleh Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin

    Diterbitkan 2018-08-01
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  14. 14
    Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification

    Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification oleh Hao‐Chih Chang, Ling Kuo, Shih‐Hsien Sung, Ching‐Yao Weng, Chun‐Ku Chen, Dau‐Ming Niu, Shih‐Ann Chen, Wen‐Chung Yu

    Diterbitkan 2023-01-01
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  15. 15
    Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay

    Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay oleh Yung-Feng Lin, Tzu-Ching Lin, Ralph Kirby, Hui-Ying Weng, Yen-Ming Liu, Dau-Ming Niu, Shih-Feng Tsai, Chia-Feng Yang

    Diterbitkan 2020-12-01
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  16. 16
    Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

    Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III oleh Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

    Diterbitkan 2019-06-01
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  17. 17
    Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

    Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study oleh Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes

    Diterbitkan 2023-09-01
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  18. 18
    Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

    Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy oleh Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, Chia-Chen Chang, Wei-Sheng Lin, Hsiu-Lien Cheng, Shang-Liang Wu, Yen-Fu Cheng, Dau-Ming Niu

    Diterbitkan 2021-08-01
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  19. 19
    Audiological and otologic manifestations of glutaric aciduria type I

    Audiological and otologic manifestations of glutaric aciduria type I oleh Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu, Yen-Fu Cheng

    Diterbitkan 2020-12-01
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  20. 20
    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 oleh 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

    Diterbitkan 2020-12-01
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