Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

por Giugliani, Roberto, Harmatz, Paul, Lin, Shuan-Pei, Scarpa, Maurizio
Publicado 2020

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis

por Lee, Chung-Lin, Lin, Shuan-Pei, Niu, Dau-Ming, Lin, Hsiang-Yu
Publicado 2022

Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report

por Weng, Shu-Chao, Hsu, Chyong-Hsin, Wang, Nien-Lu, Lin, Shuan-Pei, Jiang, Chuen-Bin
Publicado 2016

Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a...

por Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuan-Jen, Huang, Sung-Fa, Lin, Shuan-Pei
Publicado 2017

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

por Lin, Hsu-Ying, Huang, You-Hsin, Lei, Shao-Yu, Chen, Lee-Jen, Lin, Shuan-Pei
Publicado 2019

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

por Lin, Wei-De, Lin, Shuan-Pei, Wang, Chung-Hsing, Tsai, Yushin, Chen, Chih-Ping, Tsai, Fuu-Jen
Publicado 2011

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

por Lin, Hsiang-Yu, Shih, Shou-Chuan, Chuang, Chih-Kuang, Chen, Ming-Ren, Niu, Dau-Ming, Lin, Shuan-Pei
Publicado 2013

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

por Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuen-Jen, Tsai, Chia-Chen, Liu, Hsuan-Liang, Lin, Shuan-Pei
Publicado 2014

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

por Hsu, Yu-Hone, Liu, Ren-Shyan, Lin, Win-Li, Yuh, Yeong-Seng, Lin, Shuan-Pei, Wong, Tai-Tong
Publicado 2017

Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan

por Lee, Chung-Lin, Liu, Shih-Chia, Yang, Chen-Yu, Chuang, Chih-Kuang, Lin, Hsiang-Yu, Lin, Shuan-Pei
Publicado 2021

Surgical Strategy to Decrease the Revision Rate of Fassier–Duval Nailing in the Lower Limbs of Osteogenesis Imperfecta

por Hung, Yi-Chi, Cheng, Kai-Yuan, Lin, Hsiang-Yu, Lin, Shuan-Pei, Yang, Chen-Yu, Liu, Shih-Chia
Publicado 2022

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

por Lee, Yi-Hao, Su, Chin-Hui, Lin, Che-Yi, Lin, Hsiang-Yu, Lin, Shuan-Pei, Chuang, Chih-Kuang, Lee, Kuo-Sheng
Publicado 2023

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

por Lin, Hsiang-Yu, Chuang, Chih-Kuang, Su, Yi-Ning, Chen, Ming-Ren, Chiu, Hui-Chin, Niu, Dau-Ming, Lin, Shuan-Pei
Publicado 2015

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

por Lin, Hsiang-Yu, Chen, Ming-Ren, Lin, Shan-Miao, Hung, Chung-Lieh, Niu, Dau-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei
Publicado 2018

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated wi...

por Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Ru-Yi, Lin, Shuan-Pei, Tsai, Huai-Jen
Publicado 2020

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

por Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Yuan-Rong, Lin, Shuan-Pei, Tsai, Huai-Jen
Publicado 2022

Functional Independence of Taiwanese Children with Osteogenesis Imperfecta

por Syu, Yu-Min, Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei
Publicado 2022

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

por Hung, Chia-Cheng, Lin, Shin-Yu, Lee, Chien-Nan, Chen, Chih-Ping, Lin, Shuan-Pei, Chao, Mei-Chyn, Chiou, Shyh-Shin, Su, Yi-Ning
Publicado 2011

Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report

por Peng, Chia-Huei, Hsu, Chyong-Hsin, Wang, Nien-Lu, Lee, Hung-Chang, Lin, Shuan-Pei, Chan, Wai-Tao, Yeung, Chun-Yan, Jiang, Chuen-Bin
Publicado 2018

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

por Lin, Hsiang-Yu, Chen, Ming-Ren, Lin, Shan-Miao, Hung, Chung-Lieh, Niu, Dau-Ming, Chang, Tung-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei
Publicado 2019