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Shuan-Pei Lin

Showing results (221-230 of 281) with videos related to

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Orphanet Journal of Rare Diseases|July 23, 2014
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, et al.
Medicina (Kaunas, Lithuania)|January 21, 2022
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in TaiwanChung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, et al.
Orphanet Journal of Rare Diseases|October 31, 2025
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)Karolina M Stepien, Barbara K Burton, Michael B Bober, et al.
Human Immunology|February 26, 2008
The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese childrenFu-Yuan Huang, Tzu-Yang Chang, Ming-Ren Chen, et al.
Molecular Genetics and Metabolism|March 5, 2013
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjectsPaul Harmatz, Karl Eugen Mengel, Roberto Giugliani, et al.
Pediatric Nephrology (Berlin, Germany)|July 3, 2008
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndromeAndreas Dietrich, Verena Matejas, Martin Bitzan, et al.
Taiwanese Journal of Obstetrics & Gynecology|November 9, 2010
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analysesChih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, et al.
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 variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
Molecular Genetics and Metabolism|September 10, 2022
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfaJohn J Mitchell, Barbara K Burton, Michael B Bober, et al.
International Journal of Molecular Sciences|September 9, 2022
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene VariantsChih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, et al.
Pageof 29

Showing results (221-230 of 281) with videos related to

Sort By:
Pageof 29
Orphanet Journal of Rare Diseases|July 23, 2014
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, et al.
Medicina (Kaunas, Lithuania)|January 21, 2022
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in TaiwanChung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, et al.
Orphanet Journal of Rare Diseases|October 31, 2025
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)Karolina M Stepien, Barbara K Burton, Michael B Bober, et al.
Human Immunology|February 26, 2008
The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese childrenFu-Yuan Huang, Tzu-Yang Chang, Ming-Ren Chen, et al.
Molecular Genetics and Metabolism|March 5, 2013
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjectsPaul Harmatz, Karl Eugen Mengel, Roberto Giugliani, et al.
Pediatric Nephrology (Berlin, Germany)|July 3, 2008
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndromeAndreas Dietrich, Verena Matejas, Martin Bitzan, et al.
Taiwanese Journal of Obstetrics & Gynecology|November 9, 2010
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analysesChih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, et al.
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 variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
Molecular Genetics and Metabolism|September 10, 2022
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfaJohn J Mitchell, Barbara K Burton, Michael B Bober, et al.
International Journal of Molecular Sciences|September 9, 2022
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene VariantsChih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, et al.
Pageof 29