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Your search keyword '"Niu, Dau-Ming"' showing total 8 results
Start Over Author "Niu, Dau-Ming" Journal american journal of medical genetics part a
8 results on '"Niu, Dau-Ming"'

2. Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

Author

Lin, Hsiang‐Yu, primary, Chuang, Chih‐Kuang, additional, Lee, Chung‐Lin, additional, Tu, Ru‐Yi, additional, Lo, Yun‐Ting, additional, Chiu, Pao Chin, additional, Niu, Dau‐Ming, additional, Fang, Yi‐Ya, additional, Chen, Tzu‐Lin, additional, Tsai, Fuu‐Jen, additional, Hwu, Wuh‐Liang, additional, Lin, Shio Jean, additional, Chang, Tung‐Ming, additional, and Lin, Shuan‐Pei, additional

Published
2018
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3. Functional independence of Taiwanese children with Prader-Willi syndrome

Author

Lee, Chung-Lin, primary, Lin, Hsiang-Yu, additional, Tsai, Li-Ping, additional, Chiu, Huei-Ching, additional, Tu, Ru-Yi, additional, Huang, You-Hsin, additional, Chien, Yin-Hsiu, additional, Lee, Ni-Chung, additional, Niu, Dau-Ming, additional, Chao, Mei-Chyn, additional, Tsai, Fuu-Jen, additional, Chou, Yen-Yin, additional, Chuang, Chih-Kuang, additional, and Lin, Shuan-Pei, additional

Published
2018
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5. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

Author

Yang, Chia-Feng, primary, Liu, Hao-Chuan, additional, Hsu, Ting-Rong, additional, Tsai, Fang-Chih, additional, Chiang, Sheng-Fong, additional, Chiang, Chuan-Chi, additional, Ho, Hui-Chen, additional, Lai, Chih-Jou, additional, Yang, Tsui-Feng, additional, Chuang, Sung-Yin, additional, Lin, Ching-Yuang, additional, and Niu, Dau-Ming, additional

Published
2013
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6. Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome

Author

Lin, Shin-Yu, primary, Lee, Chien-Nan, additional, Hung, Chia-Cheng, additional, Tsai, Wen-Yu, additional, Lin, Shuan-Pei, additional, Li, Ni-Chung, additional, Hsieh, Wu-Shiun, additional, Tung, Yi-Ching, additional, Niu, Dau-Ming, additional, Hsu, Wen-Ming, additional, Chen, Lang-Yao, additional, Fang, Mei-Ya, additional, Tu, Mei-Pin, additional, Kuo, Pei-Wen, additional, Lin, Chiou-Ya, additional, Su, Yi-Ning, additional, and Ho, Hong-Nerng, additional

Published
2010
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7. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

Author

Lin, Hsiang-Yu, primary, Lin, Shuan-Pei, additional, Chuang, Chih-Kuang, additional, Niu, Dau-Ming, additional, Chen, Ming-Ren, additional, Tsai, Fuu-Jen, additional, Chao, Mei-Chyn, additional, Chiu, Pao-Ching, additional, Lin, Shio-Jean, additional, Tsai, Li-Ping, additional, Hwu, Wuh-Liang, additional, and Lin, Ju-Li, additional

Published
2009
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8. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.

Author

Yang CF, Liu HC, Hsu TR, Tsai FC, Chiang SF, Chiang CC, Ho HC, Lai CJ, Yang TF, Chuang SY, Lin CY, and Niu DM

Subjects
Algorithms, Female, Glycogen Storage Disease Type II therapy, Humans, Infant, Infant, Newborn, Male, National Health Programs, Taiwan epidemiology, alpha-Glucosidases blood, alpha-Glucosidases genetics, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II epidemiology, Mass Screening, Neonatal Screening
Abstract

The aim of this study was to: (a) analyze the results of a large-scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile-onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In this study, 402,281 newborns were screened for Pompe disease from January 1, 2008 to May 1, 2012. Infants with low acid α-glucosidase (GAA) activity were referred to Taipei Veterans General Hospital for diagnostic confirmation. Physical examination, biochemical parameter (creatine kinase [CK], alanine transaminase, aspartate aminotransferase, and lactate dehydrogenase), and echocardiogram assessments were performed immediately to effectively differentiate IOPD from suspected late-onset Pompe disease (LOPD) or false-positive cases with pseudodeficiency mutation. Six infants with IOPD all presented with hypotonia, extremely low GAA enzyme activity (≤0.5 µmol/L/hr) in initial dried blood spot analysis, high CK (≥250 U/L), and high left ventricular mass index (LVMI, ≥80 g/m(2)). By analyzing these parameters, IOPD was distinguished effectively and immediately from suspected LOPD and false-positive cases. Except for the first referred case, five of the infants with IOPD received first-time enzyme replacement therapy (ERT) within 4 hr of admission and exhibited marked improvement. Our findings indicate that certain clinical manifestations (hypotonia, high CK, enlarged LVMI, and extremely low GAA enzyme activity in initial dried blood spot analysis) can help in the rapid and effective differentiation of patients with IOPD from other patient with low GAA activity. Such differentiation allows for the early application of first-time ERT and leads to better outcomes., (© 2013 Wiley Periodicals, Inc.)

Published
2014
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