Zobrazeno 1 - 9
of 9
pro vyhledávání: '"You‐Hsin Huang"'
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 9, Iss 3, Pp 194-197 (2019)
Mucopolysaccharidoses (MPS) is a group of lysosomal storage disorders that lead to accumulation of glycosaminoglycans (GAGs) in many tissues and organs, resulting in different clinical features. In this study, we conducted the manifestation changes o
Externí odkaz:
https://doaj.org/article/730d33dc5e524d84931c0b0c71ef64e8
Autor:
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)
Abstract Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in lysosomes results in
Externí odkaz:
https://doaj.org/article/e244afb1161b4788b8a01e337d90fa30
Autor:
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for
Externí odkaz:
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb
Autor:
Hsiao-Jan Chen, Shuan-Pei Lin, Mei-Ying Liu, Nagendar Pendem, Min-Ju Chan, You-Hsin Huang, Hsuan-Chieh Liao, Michael H. Gelb, Arun Kumar, Chih-Kuang Chuang, Shu-Min Kao, Hsiang-Yu Lin, Chuan-Chi Chiang, Naveen Kumar Chennamaneni
Publikováno v:
The Journal of Pediatrics. 205:176-182
Objective To evaluate the initial cutoff values, rates of screen positives, and genotypes for the large-scale newborn screening program for multiple mucopolysaccharidoses (MPS) in Taiwan. Study design More than 100 000 dried blood spots were collecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a968c07043a729f63eb29fd16ab0345
https://doi.org/10.1016/j.jpeds.2018.09.063
https://doi.org/10.1016/j.jpeds.2018.09.063
Autor:
Yi-Ya Fang, Tzu-Lin Chen, Tuan-Jen Wang, Li-Yun Wang, Hsuan-Chieh Liao, You-Hsin Huang, Chuan-Chi Chiang, Ru-Yi Tu, Yun-Ting Lo, Min-Ju Chan, Chih-Kuang Chuang, Shuan-Pei Lin, Hui-Chen Ho, Hsiang-Yu Lin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in lysosomes results in cellular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c45075cd749336a1d86300c5d121ca
http://link.springer.com/article/10.1186/s13023-018-0816-4
http://link.springer.com/article/10.1186/s13023-018-0816-4
Autor:
Shuan-Pei Lin, Yann Jang Chen, Pao Chin Chiu, Chia-Ying Chang, Huei Ching Chiu, Ju Li Lin, Tung Ming Chang, You Hsin Huang, Chih-Kuang Chuang, Hsiang-Yu Lin, Dau Ming Niu, Ru Yi Tu, Mei Chyn Chao, Fuu Jen Tsai, Yu Chia Kao, Wuh-Liang Hwu, Chung Lin Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for Children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa13c747f5600dad26afcee8b189742d
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb
Autor:
Dau Ming Niu, Huei Ching Chiu, Mei Chyn Chao, Ni-Chung Lee, Fuu Jen Tsai, Ru Yi Tu, Shuan-Pei Lin, Hsiang-Yu Lin, Yin-Hsiu Chien, Yen Yin Chou, You Hsin Huang, Chih-Kuang Chuang, Chung Lin Lee, Li Ping Tsai
Publikováno v:
American journal of medical genetics. Part A. 176(6)
Prader-Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a214d3c14682f12e34a5103f6a75d4
https://pubmed.ncbi.nlm.nih.gov/29696774
https://pubmed.ncbi.nlm.nih.gov/29696774
Publikováno v:
Taiwan Journal of Ophthalmology
Taiwan Journal of Ophthalmology, Vol 9, Iss 3, Pp 194-197 (2019)
Taiwan Journal of Ophthalmology, Vol 9, Iss 3, Pp 194-197 (2019)
Mucopolysaccharidoses (MPS) is a group of lysosomal storage disorders that lead to accumulation of glycosaminoglycans (GAGs) in many tissues and organs, resulting in different clinical features. In this study, we conducted the manifestation changes o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf3fb6bb43c523a3927bf8f9254beade
https://doi.org/10.4103/tjo.tjo_85_17
https://doi.org/10.4103/tjo.tjo_85_17
Publikováno v:
Annals of Translational Medicine. 5:AB047-AB047
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c90239bd320d260d325c3fa745c0f9d
https://doi.org/10.21037/atm.2017.s047
https://doi.org/10.21037/atm.2017.s047