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Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Human Molecular Genetics
|
January 11, 2007
Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease
Ming-Chang Chiang, Hui-Mei Chen, Yi-Hsin Lee, et al.
Analytical Biochemistry
|
March 31, 2009
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, et al.
Molecular Genetics and Metabolism Reports
|
May 3, 2016
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, et al.
Biochemical Genetics
|
May 28, 2014
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan
Yen-Hui Chiu, Yu-Ning Liu, Wei-Ling Liao, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2010
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
Hsiang-Yu Lin, Cheng-Hung Huang, Hsiao-Chi Yu, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Functional independence of Taiwanese children with Prader-Willi syndrome
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, et al.
Molecular Genetics and Metabolism Reports
|
June 28, 2018
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, et al.
Journal of the Chinese Medical Association : JCMA
|
January 7, 2014
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
Hsiang-Yu Lin, Yu-Hsiu Huang, Hsuan-Chieh Liao, et al.
Molecular Genetics and Metabolism
|
February 23, 2016
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, et al.
Page
of 19
Search research articles
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Showing results (141-150 of 184) with videos related to
Sort By:
Page
of 19
Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Human Molecular Genetics
|
January 11, 2007
Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease
Ming-Chang Chiang, Hui-Mei Chen, Yi-Hsin Lee, et al.
Analytical Biochemistry
|
March 31, 2009
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, et al.
Molecular Genetics and Metabolism Reports
|
May 3, 2016
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, et al.
Biochemical Genetics
|
May 28, 2014
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan
Yen-Hui Chiu, Yu-Ning Liu, Wei-Ling Liao, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2010
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
Hsiang-Yu Lin, Cheng-Hung Huang, Hsiao-Chi Yu, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Functional independence of Taiwanese children with Prader-Willi syndrome
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, et al.
Molecular Genetics and Metabolism Reports
|
June 28, 2018
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, et al.
Journal of the Chinese Medical Association : JCMA
|
January 7, 2014
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
Hsiang-Yu Lin, Yu-Hsiu Huang, Hsuan-Chieh Liao, et al.
Molecular Genetics and Metabolism
|
February 23, 2016
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, et al.
Page
of 19