Works by Niu, Dau-Ming

Results: 65

Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 24, p. 7396, doi. 10.3390/jcm11247396

By:

Cheng, Yen-Fu;
Xirasagar, Sudha;
Chen, Chin-Shyan;
Niu, Dau-Ming;
Lin, Herng-Ching

Publication type:

Article

Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan.

Published in:

Biochemical Genetics, 2014, v. 52, n. 9/10, p. 415, doi. 10.1007/s10528-014-9657-6

By:

Chiu, Yen-Hui;
Liu, Yu-Ning;
Liao, Wei-Ling;
Chang, Ying-Chen;
Lin, Shuan-Pei;
Hsu, Chia-Chi;
Chiu, Pao-Chin;
Niu, Dau-Ming;
Wang, Chung-Hsing;
Ke, Yu-Yuan;
Chien, Yin-Hsiu;
Hsiao, Kwang-Jen;
Liu, Tze-Tze

Publication type:

Article

Audiological and otologic manifestations of glutaric aciduria type I.

Published in:

2020

By:

Chen, Yen-Chi;
Huang, Chii-Yuan;
Lee, Yen-Ting;
Wu, Chia-Hung;
Chang, Sheng-Kai;
Cheng, Hsiu-Lien;
Chang, Po-Hsiung;
Niu, Dau-Ming;
Cheng, Yen-Fu

Publication type:

journal article

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).

Published in:

2020

By:

Lin, Hsiang-Yu;
Lee, Chung-Lin;
Chang, Chia-Ying;
Chiu, Pao Chin;
Chien, Yin-Hsiu;
Niu, Dau-Ming;
Tsai, Fuu-Jen;
Hwu, Wuh-Liang;
Lin, Shio Jean;
Lin, Ju-Li;
Chao, Mei-Chyn;
Chang, Tung-Ming;
Tsai, Wen-Hui;
Wang, Tzu-Jou;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

journal article

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.

Published in:

2019

By:

Lin, Hsiang-Yu;
Chen, Ming-Ren;
Lin, Shan-Miao;
Hung, Chung-Lieh;
Niu, Dau-Ming;
Chang, Tung-Ming;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

journal article

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 3, p. 145, doi. 10.1038/jhg.2013.136

By:

Liang, Ying;
Huang, Miao-Zeng;
Cheng, Cheng-Yi;
Chao, Hung-Kun;
Fwu, Victor Tramjay;
Chiang, Szu-Hui;
Hsiao, Kwang-Jen;
Niu, Dau-Ming;
Su, Tsung-Sheng

Publication type:

Article

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 2, p. 145, doi. 10.1038/jhg.2011.146

By:

Chiu, Yen-Hui;
Chang, Ying-Chen;
Chang, Yu-Hsin;
Niu, Dau-Ming;
Yang, Yan-Ling;
Ye, Jun;
Jiang, Jianhui;
Okano, Yoshiyuki;
Lee, Dong Hwan;
Pangkanon, Suthipong;
Kuptanon, Chulaluck;
Hock, Ngu Lock;
Chiong, Mary Anne;
Cavan, Barbra V;
Hsiao, Kwang-Jen;
Liu, Tze-Tze

Publication type:

Article

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 8, doi. 10.1038/jhg.2010.121

By:

Liao, Hsiao-Mei;
Niu, Dau-Ming;
Chen, Yan-Jang;
Fang, Jye-Siung;
Chen, Shih-Jen;
Chen, Chia-Hsiang

Publication type:

Article

A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.

Published in:

Pediatric Blood & Cancer, 2014, v. 61, n. 8, p. 1457, doi. 10.1002/pbc.24934

By:

Kaya, Zühre;
Niu, Dau‐Ming;
Yorulmaz, Aslı;
Tekin, Aziz;
Gürsel, Türkiz

Publication type:

Article

Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.

Published in:

Pediatric Pulmonology, 2022, v. 57, n. 1, p. 185, doi. 10.1002/ppul.25725

By:

Wang, Ting‐Hao;
Soong, Wen‐Jue;
Niu, Dau‐Ming;
Chu, Yen‐Ling;
Chen, Li‐Zhen;
Huang, Ling‐Yi;
Yang, Chia‐Feng

Publication type:

Article

Idiopathic Calcinosis Cutis in a Child: Chemical Composition of the Calcified Deposits.

Published in:

Dermatology (10188665), 2011, v. 222, n. 3, p. 201, doi. 10.1159/000327084

By:

Niu, Dau-Ming;
Lin, Shan-Yang;
Li, Mei-Jane;
Cheng, Wen-Ting;
Pan, Chin-Chen;
Lin, Chih-Cheng

Publication type:

Article

Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 1, p. E25, doi. 10.1111/j.1399-3046.2010.01385.x

By:

Liu, Chinsu;
Niu, Dau-Ming;
Hsia, Cheng-Yuan;
Loong, Che-Chuan;
Lin, Niang-Cheng;
Tsai, Hsin-Lin;
Tsou, Mei-Yung;
Chin, Taiwai

Publication type:

Article

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1023, doi. 10.3390/jpm12071023

By:

Lin, Hsiang-Yu;
Chang, Ya-Hui;
Lee, Chung-Lin;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Hung, Pei-Wen;
Niu, Dau-Ming;
Liu, Mei-Ying;
Liu, Hsin-Yun;
Chen, Hsiao-Jan;
Kao, Shu-Min;
Wang, Li-Yun;
Ho, Huey-Jane;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

Article

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1197, doi. 10.3390/jpm11111197

By:

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

Publication type:

Article

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1066, doi. 10.3390/jpm11111066

By:

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

Publication type:

Article

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.

Published in:

Drug Design, Development & Therapy, 2019, v. 13, p. 3705, doi. 10.2147/DDDT.S207856

By:

Ramaswami, Uma;
Beck, Michael;
Hughes, Derralynn;
Kampmann, Christoph;
Botha, Jaco;
Pintos-Morell, Guillem;
West, Michael L;
Niu, Dau-Ming;
Nicholls, Kathy;
Giugliani, Roberto

Publication type:

Article

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study.

Published in:

European Neurology, 2004, v. 51, n. 4, p. 206, doi. 10.1159/000078487

By:

Guo, Yuh-Cherng;
Kwong-Kum Liao;
Bing-Wen Soong;
Tsai, Ching-Piao;
Niu, Dau-Ming;
Hsiang-Ying Lee;
Lin, Kon-Ping

Publication type:

Article

Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients.

Published in:

World Journal of Surgery, 2011, v. 35, n. 12, p. 2723, doi. 10.1007/s00268-011-1275-4

By:

Fang, Wen-Liang;
Huang, Kuo-Hung;
Chen, Jen-Hao;
Lo, Su-Shin;
Hsieh, Mao-Chih;
Shen, King-Han;
Li, Anna;
Niu, Dau-Ming;
Chiou, Shih-Hwa;
Wu, Chew-Wun

Publication type:

Article

Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma.

Published in:

World Journal of Surgery, 2011, v. 35, n. 11, p. 2472, doi. 10.1007/s00268-011-1247-8

By:

Chiang, Cheng-Yu;
Huang, Kuo-Hung;
Fang, Wen-Liang;
Wu, Chew-Wun;
Chen, Jen-Hao;
Lo, Su-Shin;
Hsieh, Mao-Chih;
Shen, King-Han;
Li, Anna;
Niu, Dau-Ming;
Chiou, Shih-Hwa

Publication type:

Article

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment.

Published in:

Pediatric Pulmonology, 2014, v. 49, n. 3, p. 277, doi. 10.1002/ppul.22774

By:

Lin, Shuan-Pei;
Shih, Shou-Chuan;
Chuang, Chih-Kuang;
Lee, Kuo-Sheng;
Chen, Ming-Ren;
Niu, Dau-Ming;
Chiu, Pao Chin;
Lin, Shio Jean;
Lin, Hsiang-Yu

Publication type:

Article

Polysomnographic characteristics in patients with mucopolysaccharidoses.

Published in:

Pediatric Pulmonology, 2010, v. 45, n. 12, p. 1205, doi. 10.1002/ppul.21309

By:

Lin, Hsiang-Yu;
Chen, Ming-Ren;
Lin, Ching-Chi;
Chen, Chih-Ping;
Lin, Dar-Shong;
Chuang, Chih-Kuang;
Niu, Dau-Ming;
Chang, Jui-Hung;
Lee, Hung-Chang;
Lin, Shuan-Pei

Publication type:

Article

Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 5, p. 483, doi. 10.1093/hmg/ddl481

By:

Chiang, Ming-Chang;
Chen, Hui-Mei;
Lee, Yi-Hsin;
Chang, Hao-Hung;
Wu, Yi-Chih;
Soong, Bing-Wen;
Chen, Chiung-Mei;
Wu, Yih-Ru;
Liu, Chin-San;
Niu, Dau-Ming;
Wu, Jer-Yuarn;
Chen, Yuan-Tsong;
Chern, Yijuang

Publication type:

Article

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175929

By:

Chang, Wen-Hsin;
Niu, Dau-Ming;
Lu, Chi-Yu;
Lin, Shyr-Yi;
Liu, Ta-Chih;
Chang, Jan-Gowth

Publication type:

Article

Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent.

Published in:

Prostate, 2012, v. 72, n. 16, p. 1767, doi. 10.1002/pros.22530

By:

Lin, Hsiang-Yu;
Kuo, Yi-Chiu;
Weng, Yu-I;
Lai, I-Lu;
Huang, Tim H.-M.;
Lin, Shuan-Pei;
Niu, Dau-Ming;
Chen, Ching-Shih

Publication type:

Article

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.

Published in:

European Journal of Ophthalmology, 2024, v. 34, n. 5, p. NP8, doi. 10.1177/11206721241254129

By:

Chang, Hsin-Ho;
Wang, An-Guor;
Niu, Dau-Ming;
Chen, Yun-Ru;
Weng, Chang-Chi

Publication type:

Article

Diagnosis of Congenital Hypothyroidism from Human Anagen Scalp Hair by Infrared Microspectroscopy.

Published in:

Ultrastructural Pathology, 2001, v. 25, n. 5, p. 357, doi. 10.1080/019131201317101225

By:

Lin, Shan-Yang;
Niu, Dau-Ming;
Tu, Chun-Pin;
Lin, Hsiu-Lin;
Li, Mei-Jane;
Cheng, Yih-Dih

Publication type:

Article

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Published in:

2015

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang.;
Yi-Ning Su;
Ming-Ren Chen;
Hui-Chin Chiu;
Dau-Ming Niu;
Shuan-Pei Lin;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Su, Yi-Ning;
Chen, Ming-Ren;
Chiu, Hui-Chin;
Niu, Dau-Ming;
Lin, Shuan-Pei

Publication type:

journal article

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

Published in:

2014

By:

Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Chen, Ming-Ren;
Chiu, Pao Chin;
Ke, Yu-Yuan;
Niu, Dau-Ming;
Tsai, Fuu-Jen;
Hwu, Wuh-Liang;
Lin, Ju-Li;
Lin, Shuan-Pei

Publication type:

journal article

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).

Published in:

2014

By:

Liu, Hao-Chuan;
Lin, Hsiang-Yu;
Yang, Chia-Feng;
Liao, Hsuan-Chieh;
Hsu, Ting-Rong;
Lo, Chiao-Wei;
Chang, Fu-Pang;
Huang, Chun-Kai;
Lu, Yung-Hsiu;
Lin, Shuan-Pei;
Yu, Wen-Chung;
Niu, Dau-Ming

Publication type:

journal article

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

Published in:

2014

By:

Hsu, Ting-Rong;
Sung, Shih-Hsien;
Chang, Fu-Pang;
Yang, Chia-Feng;
Liu, Hao-Chuan;
Lin, Hsiang-Yu;
Huang, Chun-Kai;
Gao, He-Jin;
Huang, Yu-Hsiu;
Liao, Hsuan-Chieh;
Lee, Pi-Chang;
Yang, An-Hang;
Chiang, Chuan-Chi;
Lin, Ching-Yuang;
Yu, Wen-Chung;
Niu, Dau-Ming

Publication type:

journal article

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses.

Published in:

2013

By:

Lin, Hsiang-Yu;
Shih, Shou-Chuan;
Chuang, Chih-Kuang;
Chen, Ming-Ren;
Niu, Dau-Ming;
Lin, Shuan-Pei

Publication type:

journal article

Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.

Published in:

2013

By:

Lin, Hsiang-Yu;
Chen, Ming-Ren;
Chuang, Chih-Kuang;
Chen, Chih-Ping;
Lin, Dar-Shong;
Chien, Yin-Hsiu;
Ke, Yu-Yuan;
Tsai, Fuu-Jen;
Pan, Hui-Ping;
Lin, Shio-Jean;
Hwu, Wuh-Liang;
Niu, Dau-Ming;
Lee, Ni-Chung;
Lin, Shuan-Pei

Publication type:

Correction Notice

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5

By:

Lin, Hsiang‐Yu;
Chen, Ming‐Ren;
Chuang, Chih‐Kuang;
Chen, Chih‐Ping;
Lin, Dar‐Shong;
Chien, Yin‐Hsiu;
Ke, Yu‐Yuan;
Tsai, Fuu‐Jen;
Pan, Hui‐Ping;
Lin, Shio‐Jean;
Hwu, Wuh‐Liang;
Niu, Dau‐Ming;
Lee, Ni‐Chung;
Lin, Shuan‐Pei

Publication type:

Article

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 295, doi. 10.1007/s10545-010-9129-z

By:

Niu, Dau-Ming;
Chien, Yin-Hsiu;
Chiang, Chuan-Chi;
Ho, Hui-Chen;
Hwu, Wuh-Liang;
Kao, Shu-Min;
Chiang, Szu-Hui;
Kao, Chuan-Hong;
Liu, Tze-Tze;
Chiang, Hung;
Hsiao, Kwang-Jen

Publication type:

Article

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 619, doi. 10.1007/s10545-010-9166-7

By:

Lin, Hsiang-Yu;
Huang, Cheng-Hung;
Yu, Hsiao-Chi;
Chong, Kah-Wai;
Hsu, Ju-Hui;
Lee, Pi-Chang;
Cheng, Kang-Hsiang;
Chiang, Chuan-Chi;
Ho, Huey-Jane;
Lin, Shuan-Pei;
Chen, Shih-Jen;
Lin, Po-Kang;
Niu, Dau-Ming

Publication type:

Article

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 437, doi. 10.1007/s10545-010-9126-2

By:

Niu, Dau-Ming;
Chong, Kah-Wai;
Hsu, Ju-Hui;
Wu, Tina;
Yu, Hsiao-Chi;
Huang, Cheng-Hung;
Lo, Ming-Yu;
Kwok, Ching;
Kratz, Lisa;
Ho, Low-Tone

Publication type:

Article

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 11, p. 1054, doi. 10.1002/pd.1554

By:

Niu, Dau-Ming;
Huang, Jing-Ying;
Li, Hsin-Yang;
Liu, Kai-Ming;
Wang, Shih-Ting;
Chen, Yann-Jang;
Udaka, Toru;
Izumi, Kosuke;
Kosaki, Kenjiro

Publication type:

Article

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Published in:

2011

By:

Jap, Tjin-Shing;
Chiu, Chih-Yang;
Niu, Dau-Ming;
Levine, Michael;
Levine, Michael A

Publication type:

journal article

Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.

Published in:

European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 4, p. 487, doi. 10.1093/ehjci/jeab214

By:

Lu, Dai-Yin;
Huang, Wei-Ming;
Wang, Wei-Ting;
Hung, Sheng-Che;
Sung, Shih-Hsien;
Chen, Chen-Huan;
Yang, Yu-Jou;
Niu, Dau-Ming;
Yu, Wen-Chung

Publication type:

Article

Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 721, doi. 10.1002/ajmg.a.61481

By:

Yang, Chia‐Feng;
Niu, Dau‐Ming;
Tai, Shyh‐Kuan;
Wang, Ting‐Hao;
Su, Hsiao‐Ting;
Huang, Ling‐Yi;
Soong, Wen‐Jue

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351

By:

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

Publication type:

Article

Functional independence of Taiwanese children with Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1309, doi. 10.1002/ajmg.a.38705

By:

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

Publication type:

Article

Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2114, doi. 10.1002/ajmg.a.36567

By:

Li, Cheng‐Fang;
Lin, Hsiang‐Yu;
Liu, Hao‐Chuan;
Lee, Sheng‐Hung;
Lo, Ming‐Yu;
Lin, Shuan‐Pei;
Lo, Fu‐Sung;
Niu, Dau‐Ming

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 54, doi. 10.1002/ajmg.a.36197

By:

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

Publication type:

Article

Functional independence of Taiwanese children with Down syndrome.

Published in:

2016

By:

Lin, Hsiang‐Yu;
Chuang, Chih‐Kuang;
Chen, Yen‐Jiun;
Tu, Ru‐Yi;
Chen, Ming‐Ren;
Niu, Dau‐Ming;
Lin, Shuan‐Pei

Publication type:

journal article

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 16, doi. 10.3390/diagnostics11010016

By:

Lin, Hsiang-Yu;
Chen, Ming-Ren;
Lee, Chung-Lin;
Lin, Shan-Miao;
Hung, Chung-Lieh;
Niu, Dau-Ming;
Chang, Tung-Ming;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

Article

Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 62, doi. 10.3390/diagnostics10020062

By:

Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Lee, Chung-Lin;
Chen, Ming-Ren;
Sung, Kuo-Tzu;
Lin, Shan-Miao;
Hou, Charles Jia-Yin;
Niu, Dau-Ming;
Chang, Tung-Ming;
Hung, Chung-Lieh;
Lin, Shuan-Pei

Publication type:

Article

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.

Published in:

Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 148, doi. 10.3390/diagnostics9040148

By:

Lin, Hsiang-Yu;
Lee, Chung-Lin;
Chiu, Pao Chin;
Niu, Dau-Ming;
Tsai, Fuu-Jen;
Hwu, Wuh-Liang;
Lin, Shio Jean;
Lin, Ju-Li;
Chang, Tung-Ming;
Chuang, Chih-Kuang;
Lin, Shuan-Pei

Publication type:

Article

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.

Published in:

Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 140, doi. 10.3390/diagnostics9040140

By:

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

Publication type:

Article

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03697-1

By:

Wang, Chen-Hua;
Hsu, Ting-Rong;
Liu, Mei-Ying;
Wang, Li-Yun;
Chou, I-Jun;
Lee, Wang-Tso;
Liang, Wen-Chen;
Lee, Inn-Chi;
Chen, Hsiao-Jan;
Kao, Shu-Min;
Ho, Hui-Chen;
Niu, Dau-Ming;
Hsiao, Kwang-Jen;
Chang, Ming-Yuh;
Hsieh, Hui-Min;
Jong, Yuh-Jyh

Publication type:

Article