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

Study of seven single-nucleotide polymorphisms identified in East Asians for association with obesity in a Taiwanese population

por Huang, Wei-Hsin, Hwang, Lee-Ching, Chan, Hsin-Lung, Lin, Hsiang-Yu, Lin, Yung-Hsiang
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

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

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

Population based retrospective cohort study on risk of retinopathy of prematurity in twins

por Tseng, Hui-Chen, Sung, Fung-Chang, Mou, Chih-Hsin, Lin, Hsiang Yu, Chiang, Chun-Chi, Hsia, Ning-Yi, Tzeng, Ya-Ling
Publicado 2020

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

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

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

por Lin, Hsiang-Yu, Lo, Yun-Ting, Wang, Tuan-Jen, Huang, Sung-Fa, Tu, Ru-Yi, Chen, Tzu-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang
Publicado 2019

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

por Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei
Publicado 2021

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

por Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei
Publicado 2021

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

por Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Shuan-Pei, Lin, Hsiang-Yu
Publicado 2022

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

por Syu, Yu-Min, Ma, Juine-Yih, Ou, Tzu-Hsuen, Lee, Chung-Lin, Lin, Hsiang-Yu, Lin, Shuan-Pei, Lee, Chia-Jung, Chen, Chih-Ping
Publicado 2022