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

by Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa
Published 2020-04-01

Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man

by Hsiang-Yu Lin, Chi-In Lo, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2015-10-01

Clinical Features of Ehlers-Danlos Syndrome

by Jui-Lung Yen, Shuan-Pei Lin, Ming-Ren Chen, Dau-Ming Niu
Published 2006-01-01

Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result

by Chih-Ping Chen, Shuan-Pei Lin, Hui-Bo Li, Yen-Ni Chen, Wayseen Wang
Published 2015-08-01

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

by Hsu-Ying Lin, You-Hsin Huang, Shao-Yu Lei, Lee-Jen Chen, Shuan-Pei Lin
Published 2019-01-01

Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta

by Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang
Published 2008-10-01

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

by Wei-De Lin, Shuan-Pei Lin, Chung-Hsing Wang, Yushin Tsai, Chih-Ping Chen, Fuu-Jen Tsai
Published 2011-01-01

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

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

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

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

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

by Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su
Published 2008-12-01

Clinical Features of Osteogenesis Imperfecta in Taiwan

by Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang, Dau-Ming Niu
Published 2009-07-01

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

by Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong
Published 2017-06-01

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

by Chia-Sui Hung, Ju-Li Lin, Yann-Jinn Lee, Shuan-Pei Lin, Mei-Chyn Chao, Fu-Sung Lo
Published 2007-01-01

Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome

by Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chi-Yu Huang, Dau-Ming Niu, Shuan-Pei Lin
Published 2011-11-01

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

by Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu
Published 2009-12-01

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

by Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, Yu-Hung Wu, Hsiu-Chin Chen, Yang-Chih Lin
Published 2010-03-01

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

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

Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception

by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Jian-Pei Huang, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
Published 2012-06-01

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

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

A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty...

by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Wayseen Wang
Published 2014-03-01