High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

por Chen, Hui-An, Hsu, Rai-Hseng, Chen, Pin-Wen, Lee, Ni-Chung, Chiu, Pao-Chin, Hwu, Wuh-Liang, Chien, Yin-Hsiu
Publicado 2022

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease()

por Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Koeberl, Dwight D., Tsai, Wen-Hui, Chiu, Pao-Chin, Chang, Chaw-Liang
Publicado 2017

Serial Analysis of Cardiopulmonary Fitness and Echocardiography in Patients with Fabry Disease Undergoing Enzyme Replacement Therapy

por Tuan, Sheng-Hui, Chiu, Pao-Chin, Liou, I-hsiu, Lu, Wen-Hsien, Huang, Hung-Ya, Wu, Shin-Yi, Chen, Guan-bo, Lin, Ko-Long
Publicado 2020

Asymptomatic ASS1 carriers with high blood citrulline levels

por Chen, Hui‐An, Hsu, Rai‐Hseng, Chang, Kai‐Ling, Huang, Yi‐Chen, Chiang, Yun‐Chen, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Chiu, Pao‐Chin, Chien, Yin‐Hsiu
Publicado 2022

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

por Chien, Yin-Hsiu, Tsai, Wen-Hui, Chang, Chaw-Liang, Chiu, Pao-Chin, Chou, Yen-Yin, Tsai, Fuu-Jen, Wong, Siew-Lee, Lee, Ni-Chung, Hwu, Wuh-Liang
Publicado 2020

A novel deep intronic variant strongly associates with Alkaptonuria

por Lai, Chien-Yi, Tsai, I-Jung, Chiu, Pao-Chin, Ascher, David B., Chien, Yin-Hsiu, Huang, Yu-Hsuan, Lin, Yi-Lin, Hwu, Wuh-Liang, Lee, Ni-Chung
Publicado 2021

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

por Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H., Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang
Publicado 2020

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

por 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
Publicado 2014

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)

por Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Lin, Shuan-Pei
Publicado 2018

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses

por Lin, Hsiang‐Yu, Chan, Wei‐Chun, Chen, Lee‐Jen, Lee, Yuan‐Chieh, Yeh, Shu‐I, Niu, Dau‐Ming, Chiu, Pao Chin, Tsai, Wen‐Hui, Hwu, Wuh‐Liang, Chuang, Chih‐Kuang, Lin, Shuan‐Pei
Publicado 2019

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

por 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
Publicado 2019

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

por 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
Publicado 2019

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

por 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
Publicado 2021

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism

por Lee, Cheng-Ting, Tsai, Wen-Hao, Chang, Chien-Ching, Chen, Pei-Chun, Fann, Cathy Shen-Jang, Chang, Hsueh-Kai, Liu, Shih-Yao, Wu, Mu-Zon, Chiu, Pao-Chin, Hsu, Wen-Ming, Yang, Wei-Shiung, Lai, Ling-Ping, Tsai, Wen-Yu, Yang, Shi-Bing, Chen, Pei-Lung
Publicado 2023

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

por Lin, Hsiang-Yu, Chuang, Chih-Kuang, Huang, Yu-Hsiu, Tu, Ru-Yi, Lin, Fang-Ju, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Chou, Yen-Yin, Tsai, Wen-Hui, Chang, Tung-Ming, Lin, Shuan-Pei
Publicado 2016

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

por 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
Publicado 2020

Functional independence of Taiwanese patients with mucopolysaccharidoses

por Lee, Chung‐Lin, Lin, Hsiang‐Yu, Chuang, Chih‐Kuang, Chiu, Huei‐Ching, Tu, Ru‐Yi, Huang, You‐Hsin, Hwu, Wuh‐Liang, Tsai, Fuu‐Jen, Chiu, Pao‐Chin, Niu, Dau‐Ming, Chen, Yann‐Jang, Chao, Mei‐Chyn, Chang, Tung‐Ming, Lin, Ju‐Li, Chang, Chia‐Ying, Kao, Yu‐Chia, Lin, Shuan‐Pei
Publicado 2019

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

por 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
Publicado 2021