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

بواسطة Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa
منشور في 2020-04-01

MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes

بواسطة Chih‐Kuang, Chang, Shuan‐Pei, Lin, Shyue‐Jye, Lee, Tuen‐Jen, Wang
الحاوية / القاعدة J Clin Lab Anal (2002)

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

بواسطة Hsu-Ying Lin, You-Hsin Huang, Shao-Yu Lei, Lee-Jen Chen, Shuan-Pei Lin
منشور في 2019-01-01

Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

بواسطة Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
منشور في 2013-03-01

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

بواسطة Wei-De Lin, Shuan-Pei Lin, Chung-Hsing Wang, Yushin Tsai, Chih-Ping Chen, Fuu-Jen Tsai
منشور في 2011-01-01

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and l...

بواسطة Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wayseen Wang
منشور في 2017-06-01

Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome

بواسطة Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Ming-Huei Lin, Jun-Wei Su, Wayseen Wang
منشور في 2012-06-01

Comparison of free fatty acid content of human milk from Taiwanese mothers and infant formula

بواسطة Chih-Kuang Chuang, Chun-Yan Yeung, Wai-Tim Jim, Shuan-Pei Lin, Tuen-Jen Wang, Sung-Fa Huang, Hsuan-Liang Liu
منشور في 2013-12-01

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

بواسطة Hsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin
منشور في 2018-08-01

Effect of Mutated <i>ids</i> Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associ...

بواسطة Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai
منشور في 2020-10-01

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormal...

بواسطة Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
منشور في 2016-12-01

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

بواسطة Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
منشور في 2019-10-01

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

بواسطة 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, Shuan-Pei Lin
منشور في 2020-11-01