Yin-Hsiu Chien (Y-H Chien)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 40

Top Topics

Tandem Mass Spectrometry

Duchenne Muscular Dystrophy

Top Venues

International journal of neonatal screening

Orphanet journal of rare diseases

Communications chemistry

NPJ genomic medicine

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

Publications

Paul Wuh-Liang Hwu, Karine Chang, Yu-Han Liu, Hao-Chun Wang, Ni-Chung Lee, Yin-Hsiu Chien
Gene therapy corrects the neurological deficits of mice with sialidosis. Gene therapy 31 (5-6) (2024)
Huang-Yi Li, Wei-An Chen, Hung-Yi Lin, Chi-Wei Tsai, Yu-Ting Chiu, Wen-Yi Yun, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Wei-Chieh Cheng
A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease. Communications chemistry 7 (1) (2024)
Huang-Yi Li, Wei-An Chen, Hung-Yi Lin, Chi-Wei Tsai, Yu-Ting Chiu, Wen-Yi Yun, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Wei-Chieh Cheng
A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease. Communications chemistry 7 (1) (2024)
Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Hung-Chang Lee, Pen-Hua Su, Fuu-Jen Tsai
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases 19 (1) (2024)
Paul Wuh-Liang Hwu, Karine Chang, Yu-Han Liu, Hao-Chun Wang, Ni-Chung Lee, Yin-Hsiu Chien
Gene therapy corrects the neurological deficits of mice with sialidosis. Gene therapy (2024)
Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Hung-Chang Lee, Pen-Hua Su, Fuu-Jen Tsai
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases 19 (1) (2024)
Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Hung-Chang Lee, Pen-Hua Su, Fuu-Jen Tsai
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases 19 (1) (2024)
Paul Wuh-Liang Hwu, Karine Chang, Yu-Han Liu, Hao-Chun Wang, Ni-Chung Lee, Yin-Hsiu Chien
Gene therapy corrects the neurological deficits of mice with sialidosis. Gene therapy (2024)
Huang-Yi Li, Wei-An Chen, Hung-Yi Lin, Chi-Wei Tsai, Yu-Ting Chiu, Wen-Yi Yun, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Wei-Chieh Cheng
A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease. Communications chemistry 7 (1) (2024)
Paul Wuh-Liang Hwu, Karine Chang, Yu-Han Liu, Hao-Chun Wang, Ni-Chung Lee, Yin-Hsiu Chien
Gene therapy corrects the neurological deficits of mice with sialidosis. Gene therapy 31 (5-6) (2024)
Chung-Hsing Wang, Yu-Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh-Chen Huang, Yin-Hsiu Chien, Hung-Chang Lee, Pen-Hua Su, Fuu-Jen Tsai
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. Orphanet journal of rare diseases 19 (1) (2024)
Huang-Yi Li, Wei-An Chen, Hung-Yi Lin, Chi-Wei Tsai, Yu-Ting Chiu, Wen-Yi Yun, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Wei-Chieh Cheng
A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease. Communications chemistry 7 (1) (2024)
Rai-Hseng Hsu, Hui-An Chen, Yin-Hsiu Chien, Paul Wuh-Liang Hwu, Ju-Li Lin, Hui-Ling Weng, Yi-Ting Lin, Yu-Ching Lin, Hung-Chang Lee
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia. Molecular genetics & genomic medicine (2023)
Meng-Ju Melody Tsai, Miao-Zi Hung, Yi-Lin Lin, Hung-Chang Lee, Yin-Hsiu Chien, Paul Wuh-Liang Hwu
Curated incidence of lysosomal storage diseases from the Taiwan Biobank. NPJ genomic medicine 8 (1) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Rai-Hseng Hsu, Chen-Hao Lee, Yin-Hsiu Chien, Shuan-Pei Lin, Miao-Zi Hung, Nai-Chi Chen, Yi-Lin Lin, Paul Wuh-Liang Hwu, Hung-Chang Lee
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine (2023)
Victor D Armengol, Basil T Darras, Ahmad Abdulaziz Abulaban, Ali Alshehri, Nina Barisic, Tawfeg Ben-Omran, Guenther Bernert, Claudia Castiglioni, Yin-Hsiu Chien, Michelle Anne Farrar, Gwendoline Q Kandawasvika, Satish V Khadilkar, Jean K Mah, Chiara Marini-Bettolo, Damjan Osredkar, Gerald Pfeffer, Flavia B Piazzon, Inmaculada Pitarch Castellano, Susana Quijano-Roy, Kayoko Saito, Jin-Hong Shin, Juan Francisco Vázquez Costa, Maggie C Walter, Jithangi Wanigasinghe, Hui Xiong, Robert C Griggs, Bhaskar Roy
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology. Clinical practice 14 (1) (2023)
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency. Orphanet journal of rare diseases 18 (1) (2023)
Ya-Chun Tang, Po-Hsiang Tsui, Chiao-Yin Wang, Yin-Hsiu Chien, Hui-Ling Weng, Chung-Yi Yang, Wen-Chin Weng
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy. Nutrients 14 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Chia-Mei Chu, Hsin-Hui Yu, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Hung-Chang Lee, Chi-Kang Tseng
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome. NPJ genomic medicine 7 (1) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Yin-Hsiu Chien, Ni-Chung Lee, Wen-Chin Weng, Li-Chu Chen, Yu-Hsuan Huang, Chao-Szu Wu, Wuh-Liang Hwu
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 43 (7) (2022)
Hui-An Chen, Rai-Hseng Hsu, Kai-Ling Chang, Yi-Chen Huang, Yun-Chen Chiang, Hung-Chang Lee, Wuh-Liang Hwu, Pao-Chin Chiu, Yin-Hsiu Chien
Asymptomatic ASS1 carriers with high blood citrulline levels. Molecular genetics & genomic medicine 10 (9) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Chien-Yi Lai, I-Jung Tsai, Pao-Chin Chiu, David Benjamin Ascher, Yin-Hsiu Chien, Yu-Hsuan Huang, Yi-Lin Lin, Wuh-Liang Hwu, Hung-Chang Lee
A novel deep intronic variant strongly associates with Alkaptonuria. NPJ genomic medicine 6 (1) (2021)
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius Facchin, Yin-Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C Kasper, Hsiang-Yu Lin, Shuan-Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Human mutation 42 (11) (2021)
Yen-Hua Huang, Tzu-Chien Su, Chung-Hsing Wang, Siew-Lee Wong, Yin-Hsiu Chien, Yu-Tai Wang, Wuh-Liang Hwu, Hung-Chang Lee
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients. Scientific data 8 (1) (2021)
Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Paul Wuh-Liang Hwu, Tung-Ming Chang, Hung-Chang Lee
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. Children (Basel, Switzerland) 8 (12) (2021)
Yin-Hsiu Chien, W-L Hwu
High incidence of co-existing GLA variants and stroke susceptibility. European journal of neurology 26 (6) (2020)
Paul Wuh-Liang Hwu, Yin-Hsiu Chien
Development of Newborn Screening for Pompe Disease. International journal of neonatal screening 6 (1) (2020)
Wen-Chin Weng, Yu-Kan Hsu, Fu-Man Chang, Chun-Yen Lin, Wuh-Liang Hwu, Wang-Tso Lee, Ni-Chung Lee, Yin-Hsiu Chien
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening. Genetics in medicine : official journal of the American College of Medical Genetics 23 (2) (2020)
Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Paul Wuh-Liang Hwu
The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan. International journal of neonatal screening 6 (2) (2020)
Mullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-Pong Ho, Donald M L Tse, Brooke Willis, Anna Ka-Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M Quinzii, Wuh-Liang Hwu, Yin-Hsiu Chien, Pao-Lin Kuo, Victor Chi-Man Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J T Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit-San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni-Chung Lee, Cheuk-Wing Fung, Brian Hon-Yin Chung
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. NPJ genomic medicine 4 (2019)
Yin-Hsiu Chien, N-C Lee, W-L Hwu, J-Y Fang
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment? European journal of neurology 25 (10) (2019)
Jyh-Ming Jimmy Juang, Chia-Tung Shun, Yih-Sharng Chen, Wuh-Liang Hwu, Ni-Chung Lee, Wen-Hsin Tsai, Nai-Qi Chen, Yin-Hsiu Chien
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia. Genetics in medicine : official journal of the American College of Medical Genetics 21 (8) (2019)
Shu-Chuan Chiang, Pin-Wen Chen, Paul Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien
Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. International journal of neonatal screening 4 (4) (2018)
Ni-Chung Lee, Wuh-Liang Hwu, Shin-Ichi Muramatsu, Darin J Falk, Barry J Byrne, Chia-Hao Cheng, Nien-Chu Shih, Kai-Ling Chang, Li-Kai Tsai, Yin-Hsiu Chien
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice. Molecular neurobiology 55 (6) (2017)