Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Yun Ting Lo"'
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole ex
Externí odkaz:
https://doaj.org/article/018bcbfda5d24cb1a20ec3e3bac830b5
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Diagnostics, Vol 14, Iss 16, p 1815 (2024)
Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese p
Externí odkaz:
https://doaj.org/article/02c1200cf9204d7da31eabca4f7bccaf
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Diagnostics, Vol 14, Iss 8, p 846 (2024)
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype–phenotype correlations in Asian populations are not fully elucidated. This study performed a
Externí odkaz:
https://doaj.org/article/8d228755c9434cad837fa45f14317e66
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:
Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, 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:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9979 (2022)
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other
Externí odkaz:
https://doaj.org/article/e1fd735f3bfd4cdea047636d5b1cb7e6
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
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0255780 (2021)
ObjectiveFalls are serious issues in older populations. Balance problems are a major cause of falls and may lead to fear of falling and decreased balance confidence. The Otago Exercise Programme (OEP) is an effective fall prevention program that bene
Externí odkaz:
https://doaj.org/article/c995f5e41a82430e89708c661a28d8b3
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