Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Ru Yi Tu"'
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Journal of the Formosan Medical Association, Vol 121, Iss 3, Pp 712-717 (2022)
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. In the following years, she presented gradually with chr
Externí odkaz:
https://doaj.org/article/40cbd7313bc04f238e5b2ea1d994c105
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100768- (2021)
SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. Metabolic anomalies such as insulin resistance and diabetes are also
Externí odkaz:
https://doaj.org/article/b168780cf3bd4d85b8d8c41060a2b584
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, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Medicina, Vol 58, Iss 1, p 15 (2021)
Background and Objectives: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This st
Externí odkaz:
https://doaj.org/article/30f35afe1f6243d590017c54623c8553
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Children, Vol 8, Iss 11, p 952 (2021)
Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited patt
Externí odkaz:
https://doaj.org/article/a825f127e10840948a770d64e2988bb3
Autor:
Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Fran Sisca, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Diagnostics, Vol 11, Iss 9, p 1583 (2021)
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified. Newborn screening (NBS) programs for MPSs
Externí odkaz:
https://doaj.org/article/e30a8f9f8fff4ade891f54b9b5bb0d18
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:
Shuan-Pei Lin, Yun-Ting Lo, Chyong-Hsin Hsu, Ru-Yi Tu, Chih-Kuang Chuang, Huei-Ching Chiu, Chung-Lin Lee, Hsiang-Yu Lin, Ya-Hui Chang
Publikováno v:
Journal of the Formosan Medical Association. 121:712-717
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. In the following years, she presented gradually with chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d373ab72ad36631b7516fa481deb8df7
https://doi.org/10.1016/j.jfma.2021.07.024
https://doi.org/10.1016/j.jfma.2021.07.024
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Medicina, Vol 58, Iss 15, p 15 (2022)
Medicina
Medicina; Volume 58; Issue 1; Pages: 15
Medicina
Medicina; Volume 58; Issue 1; Pages: 15
Background and Objectives: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b759c7e20d3120f5251da289d3c197ee
https://www.mdpi.com/1648-9144/58/1/15
https://www.mdpi.com/1648-9144/58/1/15
Autor:
Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai
Publikováno v:
Diagnostics, Vol 10, Iss 10, p 854 (2020)
Mucopolysaccharidosis type II (MPS II) is an X-linked disorder resulting from a deficiency in iduronate 2-sulfatase (IDS), which is reported to be caused by gene mutations in the iduronate 2-sulfatase (IDS) gene. Many IDS mutation sites have not yet
Externí odkaz:
https://doaj.org/article/052c15c73eab42aba87b1842dc01f5ab