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Journal of Human Genetics
|
January 10, 2014
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
Ying Liang, Miao-Zeng Huang, Cheng-Yi Cheng, et al.
Biochemical and Biophysical Research Communications
|
March 17, 2017
Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
Kuan-Hsuan Chen, Yueh-Ching Chou, Chen-Yuan Hsiao, et al.
BMC Neurology
|
February 8, 2017
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation
Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, et al.
Orphanet Journal of Rare Diseases
|
August 6, 2021
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2025
A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta
Ian Keyzor, Ana Maria Martins, Sema Kalkan Uçar, et al.
Pediatric Pulmonology
|
February 13, 2013
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment
Shuan-Pei Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Audiological and otologic manifestations of glutaric aciduria type I
Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2020
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Molecular Genetics and Metabolism
|
March 6, 2014
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
European Heart Journal. Cardiovascular Imaging
|
October 23, 2021
Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
Dai-Yin Lu, Wei-Ming Huang, Wei-Ting Wang, et al.
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of 19
Search research articles
Search
Showing results (91-100 of 184) with videos related to
Sort By:
Page
of 19
Journal of Human Genetics
|
January 10, 2014
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
Ying Liang, Miao-Zeng Huang, Cheng-Yi Cheng, et al.
Biochemical and Biophysical Research Communications
|
March 17, 2017
Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy
Kuan-Hsuan Chen, Yueh-Ching Chou, Chen-Yuan Hsiao, et al.
BMC Neurology
|
February 8, 2017
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation
Han-Jui Lee, Ting-Rong Hsu, Sheng-Che Hung, et al.
Orphanet Journal of Rare Diseases
|
August 6, 2021
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases
|
August 12, 2025
A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta
Ian Keyzor, Ana Maria Martins, Sema Kalkan Uçar, et al.
Pediatric Pulmonology
|
February 13, 2013
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment
Shuan-Pei Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Audiological and otologic manifestations of glutaric aciduria type I
Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2020
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Molecular Genetics and Metabolism
|
March 6, 2014
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
European Heart Journal. Cardiovascular Imaging
|
October 23, 2021
Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy
Dai-Yin Lu, Wei-Ming Huang, Wei-Ting Wang, et al.
Page
of 19