Hsiang-Yu Lin (Shuan-Pei Lin)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 38

Top Topics

Autism Spectrum Disorder

Replacement Therapy

Top Venues

Journal of personalized medicine

Diagnostics (Basel, Switzerland)

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
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
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular genetics & genomic medicine 12 (7) (2024)
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
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
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
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (16) (2024)
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
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 14 (8) (2024)
Yi-Hao Lee, Chin-Hui Su, Che-Yi Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Kuo-Sheng Lee
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA. Journal of personalized medicine 13 (3) (2023)
Yi-Hao Lee, Chin-Hui Su, Che-Yi Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Kuo-Sheng Lee
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA. Journal of personalized medicine 13 (3) (2023)
Yi-Hao Lee, Chin-Hui Su, Che-Yi Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Kuo-Sheng Lee
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA. Journal of personalized medicine 13 (3) (2023)
Cheng Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Yuan-Rong Tu, Shuan-Pei Lin, Huai-Jen Tsai
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. Journal of personalized medicine 12 (8) (2022)
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Shuan-Pei Lin, Hsiang-Yu Lin
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome. Drug design, development and therapy 16 (2022)
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. International journal of molecular sciences 23 (17) (2022)
Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. Journal of personalized medicine 12 (8) (2022)
Hsuan-Chih Lao, Ying-Chun Lin, Muh-Lii Liang, Ying-Wei Yang, Ya-Hsien Huang, Ying-Lun Chan, Yung-Wei Hsu, Shuan-Pei Lin, Chih-Kuang Chuang, Jen-Kun Cheng, Hsiang-Yu Lin
The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study. Journal of personalized medicine 12 (8) (2022)
Yu-Min Syu, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Functional Independence of Taiwanese Children with Osteogenesis Imperfecta. Journal of personalized medicine 12 (8) (2022)
Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review. Diagnostics (Basel, Switzerland) 12 (10) (2022)
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
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome. Children (Basel, Switzerland) 9 (6) (2022)
Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. Journal of personalized medicine 12 (5) (2022)
Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan. Journal of personalized medicine 12 (7) (2022)
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Chia-Feng Yang, Meng-Che Tsai, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. Journal of personalized medicine 11 (11) (2021)
Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. Medicina (Kaunas, Lithuania) 58 (1) (2021)
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. Journal of personalized medicine 11 (11) (2021)
Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Fran Sisca, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis. Diagnostics (Basel, Switzerland) 11 (9) (2021)
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. Children (Basel, Switzerland) 8 (11) (2021)
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Hsiang-Yu Lin
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. Orphanet journal of rare diseases 16 (1) (2021)
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
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. Diagnostics (Basel, Switzerland) 11 (1) (2020)
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ming-Ren Chen, Kuo-Tzu Sung, Shan-Miao Lin, Charles Jia-Yin Hou, Dau-Ming Niu, Tung-Ming Chang, Chung-Lieh Hung, Shuan-Pei Lin
Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses. Diagnostics (Basel, Switzerland) 10 (2) (2020)
Cheng Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai
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. Diagnostics (Basel, Switzerland) 10 (10) (2020)
Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Hsiang-Yu Lin
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). Orphanet journal of rare diseases 15 (1) (2020)
Chung-Lin Lee, Louis Tan Hock-Cheong Tan, Hsiang-Yu Lin, Paul Wuh-Liang Hwu, Hung-Chang Lee, Yin-Hsiu Chien, Chih-Kuang Chuang, Mei-Hwan Wu, Jou-Kou Wang, Shao-Yin Chu, Ju-Li Lin, Fu-Sung Lo, Pen-Hua Su, Chia-Chi Hsu, Yu-Yuan Ko, Ming-Ren Chen, Hui-Ching Chiu, Shuan-Pei Lin
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 182 (2) (2019)
Hsiang-Yu Lin, Ru-Yi Tu, Schu-Rern Chern, Yun-Ting Lo, Sisca Fran, Fang-Jie Wei, Sung-Fa Huang, Shin-Yu Tsai, Ya-Hui Chang, Chung-Lin Lee, Shuan-Pei Lin, Chih-Kuang Chuang
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). International journal of molecular sciences 21 (1) (2019)
Chung-Lin Lee, Hsiang-Yu Lin, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Wuh-Liang Hwu, Fuu-Jen Tsai, Pao-Chin Chiu, Dau-Ming Niu, Yann-Jang Chen, Mei-Chyn Chao, Tung-Ming Chang, Ju-Li Lin, Chia-Ying Chang, Yu-Chia Kao, Shuan-Pei Lin
Functional independence of Taiwanese patients with mucopolysaccharidoses. Molecular genetics & genomic medicine 7 (8) (2019)
Hsiang-Yu Lin, Wei-Chun Chan, Lee-Jen Chen, Yuan-Chieh Lee, Shu-I Yeh, Dau-Ming Niu, Pao Chin Chiu, Wen-Hui Tsai, Wuh-Liang Hwu, Chih-Kuang Chuang, Shuan-Pei Lin
Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses. Molecular genetics & genomic medicine 7 (5) (2019)
Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Paul Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses. Diagnostics (Basel, Switzerland) 9 (4) (2019)
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin
Functional independence of Taiwanese children with Prader-Willi syndrome. American journal of medical genetics. Part A 176 (6) (2018)
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Pao Chin Chiu, Dau-Ming Niu, Yi-Ya Fang, Tzu-Lin Chen, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Tung-Ming Chang, Shuan-Pei Lin
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. American journal of medical genetics. Part A 176 (9) (2018)
Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Tuan-Jen Wang, Sung-Fa Huang, Tzu-Lin Chen, Yu-Shan Wang, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses. Molecular genetics & genomic medicine 6 (6) (2018)