Works by Chuang, Chih-Kuang

Results: 65

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

Activated naïve γδ T cells accelerate deep molecular response to BCR-ABL inhibitors in patients with chronic myeloid leukemia.

Published in:

Blood Cancer Journal, 2021, v. 11, n. 11, p. 1, doi. 10.1038/s41408-021-00572-7

By:

Chang, Yu-Cheng;
Chiang, Yi-Hao;
Hsu, Kate;
Chuang, Chih-Kuang;
Kao, Chen-Wei;
Chang, Yi-Fang;
Chang, Ming-Chih;
Lim, Ken-Hong;
Cheng, Hung-I;
Hsu, Yen-Ning;
Chen, Caleb G.

Publication type:

Article

Genetic Studies of Prader-Willi Patients Provide Evidence for Conservation of Genomic Architecture in Proximal Chromosome 15q.

Published in:

Annals of Human Genetics, 2011, v. 75, n. 2, p. 211, doi. 10.1111/j.1469-1809.2010.00633.x

By:

Hou, Aihua;
Lin, Shuan-Pei;
Ho, Shi Yun;
Chen, Chi-Fung Jennifer;
Lin, Hsiang-Yu;
Chen, Yen-Juin;
Huang, Chi-Yu;
Chiu, Huei-Ching;
Chuang, Chih-Kuang;
Chen, Ken-Shiung

Publication type:

Article

p-cresylsulfate and indoxyl sulfate level at different stages of chronic kidney disease.

Published in:

Journal of Clinical Laboratory Analysis, 2011, v. 25, n. 3, p. 191, doi. 10.1002/jcla.20456

By:

Lin, Cheng-Jui;
Chen, Han-Hsiang;
Pan, Chi-Feng;
Chuang, Chih-Kuang;
Wang, Tuen-Jen;
Sun, Fang-Ju;
Wu, Chih-Jen

Publication type:

Article

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA.

Published in:

Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 494, doi. 10.3390/jpm13030494

By:

Lee, Yi-Hao;
Su, Chin-Hui;
Lin, Che-Yi;
Lin, Hsiang-Yu;
Lin, Shuan-Pei;
Chuang, Chih-Kuang;
Lee, Kuo-Sheng

Publication type:

Article

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1338, doi. 10.3390/jpm12081338

By:

Lee, Chung-Lin;
Chuang, Chih-Kuang;
Syu, Yu-Min;
Chiu, Huei-Ching;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Chang, Ya-Hui;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1343, doi. 10.3390/jpm12081343

By:

Lao, Hsuan-Chih;
Lin, Ying-Chun;
Liang, Muh-Lii;
Yang, Ying-Wei;
Huang, Ya-Hsien;
Chan, Ying-Lun;
Hsu, Yung-Wei;
Lin, Shuan-Pei;
Chuang, Chih-Kuang;
Cheng, Jen-Kun;
Lin, Hsiang-Yu

Publication type:

Article

Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1205, doi. 10.3390/jpm12081205

By:

Syu, Yu-Min;
Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1199, doi. 10.3390/jpm12081199

By:

Lin, Cheng-Yung;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Zhang, Po-Hsiang;
Tu, Yuan-Rong;
Lin, Shuan-Pei;
Tsai, Huai-Jen

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

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 817, doi. 10.3390/jpm12050817

By:

Lee, Chung-Lin;
Lin, Shan-Miao;
Chen, Ming-Ren;
Chuang, Chih-Kuang;
Syu, Yu-Min;
Chiu, Huei-Ching;
Tu, Ru-Yi;
Lo, Yun-Ting;
Chang, Ya-Hui;
Lin, Hsiang-Yu;
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

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome.

Published in:

Drug Design, Development & Therapy, 2022, v. 16, p. 143, doi. 10.2147/DDDT.S219433

By:

Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Tu, Ru-Yi;
Lo, Yun-Ting;
Chang, Ya-Hui;
Lin, Shuan-Pei;
Lin, Hsiang-Yu

Publication type:

Article

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9979, doi. 10.3390/ijms23179979

By:

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

Publication type:

Article

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 114, doi. 10.3390/ijms21010114

By:

Lin, Hsiang-Yu;
Tu, Ru-Yi;
Chern, Schu-Rern;
Lo, Yun-Ting;
Fran, Sisca;
Wei, Fang-Jie;
Huang, Sung-Fa;
Tsai, Shin-Yu;
Chang, Ya-Hui;
Lee, Chung-Lin;
Lin, Shuan-Pei;
Chuang, Chih-Kuang

Publication type:

Article

Foaming of Electron-Beam Irradiated LDPE Blends Containing Recycled Polyethylene Foam.

Published in:

Journal of Polymer Research, 2004, v. 11, n. 2, p. 149, doi. 10.1023/B:JPOL.0000031081.29087.2f

By:

Liu, I-Chun;
Chuang, Chih-Kuang;
Tsiang, Raymond Chien-Chao

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

Polysomnographic characteristics in patients with Prader-Willi syndrome.

Published in:

Pediatric Pulmonology, 2007, v. 42, n. 10, p. 881, doi. 10.1002/ppul.20673

By:

Lin, Hsiang-Yu;
Lin, Shuan-Pei;
Lin, Ching-Chi;
Tsai, Li-Ping;
Chen, Ming-Ren;
Chuang, Chih-Kuang;
Huang, Chi-Yu

Publication type:

Article

Free amino acids in full-term and pre-term human milk and infant formula.

Published in:

2005

By:

Chuang, Chih-Kuang;
Lin, Shuan-Pei;
Lee, Hung-Chang;
Wang, Tuen-Jen;
Shih, Yu-Shu;
Huang, Fu-Yuan;
Yeung, Chun-Yan

Publication type:

journal article

Molecular dynamics simulations to investigate the stability and aggregation behaviour of the amyloid-forming peptide VQIVYK from tau protein.

Published in:

Molecular Simulation, 2010, v. 36, n. 13, p. 1013, doi. 10.1080/08927022.2010.499147

By:

Zhao, Jian-Hua;
Liu, Hsuan-Liang;
Chuang, Chih-Kuang;
Liu, Kung-Tien;
Tsai, Wei-Bor;
Ho, Yih

Publication type:

Article

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

Published in:

2016

By:

Hsiang-Yu Lin;
Chih-Kuang Chuang;
Yu-Hsiu Huang;
Ru-Yi Tu;
Fang-Ju Lin;
Shio Jean Lin;
Pao Chin Chiu;
Dau-Ming Niu;
Fuu-Jen Tsai;
Wuh-Liang Hwu;
Yin-Hsiu Chien;
Ju-Li Lin;
Yen-Yin Chou;
Wen-Hui Tsai;
Tung-Ming Chang;
Shuan-Pei Lin;
Lin, Hsiang-Yu;
Chuang, Chih-Kuang;
Huang, Yu-Hsiu;
Tu, Ru-Yi

Publication type:

journal 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

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses.

Published in:

2014

By:

Chuang, Chih-Kuang;
Lin, Hsiang-Yu;
Wang, Tuen-Jen;
Tsai, Chia-Chen;
Liu, Hsuan-Liang;
Lin, Shuan-Pei

Publication type:

journal article

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Published in:

2013

By:

Lin, Shuan-Pei;
Lin, Hsiang-Yu;
Wang, Tuen-Jen;
Chang, Chia-Ying;
Lin, Chia-Hui;
Huang, Sung-Fa;
Tsai, Chia-Chen;
Liu, Hsuan-Liang;
Keutzer, Joan;
Chuang, Chih-Kuang

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

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.

Published in:

Medicina (1010660X), 2022, v. 58, n. 1, p. 15, doi. 10.3390/medicina58010015

By:

Lee, Chung-Lin;
Chuang, Chih-Kuang;
Tu, Ru-Yi;
Chiu, Huei-Ching;
Lo, Yun-Ting;
Chang, Ya-Hui;
Chen, Yen-Jiun;
Chou, Chao-Ling;
Wu, Peih-Shan;
Chen, Chih-Ping;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

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

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

Published in:

Children, 2022, v. 9, n. 6, p. 905, doi. 10.3390/children9060905

By:

Syu, Yu-Min;
Lee, Hung-Chang;
Chang, Jui-Hsing;
Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Published in:

Human Genetics, 2005, v. 116, n. 3, p. 160, doi. 10.1007/s00439-004-1234-3

By:

Chang, Jui-Hung;
Lin, Shuan-Pei;
Lin, Shu-Chuan;
Tseng, Kai-Li;
Li, Chia-Ling;
Chuang, Chih-Kuang;
Lee-Chen, Guey-Jen

Publication type:

Article

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 357, doi. 10.1002/ajmg.a.61429

By:

Lee, Chung‐Lin;
Tan, Louis Tan Hock‐Cheong;
Lin, Hsiang‐Yu;
Hwu, Wuh‐Liang;
Lee, Ni‐Chung;
Chien, Yin‐Hsiu;
Chuang, Chih‐Kuang;
Wu, Mei‐Hwan;
Wang, Jou‐Kou;
Chu, Shao‐Yin;
Lin, Ju‐Li;
Lo, Fu‐Sung;
Su, Pen‐Hua;
Hsu, Chia‐Chi;
Ko, Yu‐Yuan;
Chen, Ming‐Ren;
Chiu, Hui‐Ching;
Lin, Shuan‐Pei

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

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3095, doi. 10.1002/ajmg.a.34326

By:

Lin, Dar-Shong;
Chang, Jui-Hsing;
Liu, Hsuan-Liang;
Wei, Chin-Hung;
Yeung, Chun-Yan;
Ho, Che-Sheng;
Shu, Chyong-Hsin;
Chiang, Ming-Fu;
Chuang, Chih-Kuang;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Jian, Yuan-Ren;
Huang, Zon-Darr;
Lin, Shuan-Pei

Publication type:

Article

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1285, doi. 10.1002/ajmg.a.33963

By:

Lin, Dar-Shong;
Yeung, Chun-Yan;
Liu, Hsuan-Liang;
Ho, Che-Sheng;
Shu, Chyong-Hsin;
Chuang, Chih-Kuang;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Huang, Zon-Darr;
Jian, Yuan-Ren;
Lin, Shuan-Pei

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

P-Cresyl Sulfate Is a Valuable Predictor of Clinical Outcomes in Pre-ESRD Patients.

Published in:

2014

By:

Lin, Cheng-Jui;
Pan, Chi-Feng;
Chuang, Chih-Kuang;
Sun, Fang-Ju;
Wang, Duen-Jen;
Chen, Han-Hsiang;
Liu, Hsuan-Liang;
Wu, Chih-Jen

Publication type:

Journal Article

Functional Independence of Taiwanese Children with Silver–Russell Syndrome.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 9, p. 1109, doi. 10.3390/diagnostics15091109

By:

Fang, Hung-Hsiang;
Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Wu, Jun-Yi;
Chou, Yen-Yin;
Wang, Chung-Hsing;
Lin, Shio-Jean;
Chu, Shao-Yin;
Yang, Chen;
Ou, Tsung-Ying;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 8, p. 980, doi. 10.3390/diagnostics15080980

By:

Lee, Chung-Lin;
Chang, Szu-Wen;
Fang, Hung-Hsiang;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Wu, Jun-Yi;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

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

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 4, p. 464, doi. 10.3390/diagnostics15040464

By:

Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series.

Published in:

2024

By:

Fang, Hung-Hsiang;
Lee, Chung-Lin;
Chen, Hui-Ju;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Case Study

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Published in:

Diagnostics (2075-4418), 2024, v. 14, n. 16, p. 1815, doi. 10.3390/diagnostics14161815

By:

Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chen, Ming-Ren;
Lin, Ju-Li;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

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Diagnostics (2075-4418), 2024, v. 14, n. 8, p. 846, doi. 10.3390/diagnostics14080846

By:

Lee, Chung-Lin;
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Chen, Ming-Ren;
Lin, Ju-Li;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Tu, Yuan-Rong;
Lo, Yun-Ting;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1583, doi. 10.3390/diagnostics11091583

By:

Chuang, Chih-Kuang;
Lee, Chung-Lin;
Tu, Ru-Yi;
Lo, Yun-Ting;
Sisca, Fran;
Chang, Ya-Hui;
Liu, Mei-Ying;
Liu, Hsin-Yun;
Chen, Hsiao-Jan;
Kao, Shu-Min;
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Ho, Huey-Jane;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

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;
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Hung, Chung-Lieh;
Niu, Dau-Ming;
Chang, Tung-Ming;
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Lin, Shuan-Pei

Publication type:

Article

Effect of Mutated ids 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.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 854, doi. 10.3390/diagnostics10100854

By:

Lin, Cheng-Yung;
Lin, Hsiang-Yu;
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Tu, Ru-Yi;
Lin, Shuan-Pei;
Tsai, Huai-Jen

Publication type:

Article