Search research articles
Contact Us
Filters
Showing results (141-150 of 183) with videos related to
Page
of 19
Sort By:
Human Mutation
|
August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin 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.
American Journal of Medical Genetics. Part A
|
March 11, 2006
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004
Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
May 30, 2007
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, 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.
Diagnostics (Basel, Switzerland)
|
September 28, 2021
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis
Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, et al.
The Journal of Pediatrics
|
November 10, 2018
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
Min-Ju Chan, Hsuan-Chieh Liao, Michael H Gelb, 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.
Journal of Inherited Metabolic Disease
|
October 7, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan
Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, et al.
Page
of 19
Search research articles
Search
Showing results (141-150 of 183) with videos related to
Sort By:
Page
of 19
Human Mutation
|
August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin 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.
American Journal of Medical Genetics. Part A
|
March 11, 2006
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004
Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
May 30, 2007
Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
Hsiang-Yu Lin, Shuan-Pei Lin, Yen-Jiun Chen, 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.
Diagnostics (Basel, Switzerland)
|
September 28, 2021
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis
Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, et al.
The Journal of Pediatrics
|
November 10, 2018
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
Min-Ju Chan, Hsuan-Chieh Liao, Michael H Gelb, 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.
Journal of Inherited Metabolic Disease
|
October 7, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan
Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, et al.
Page
of 19