Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ru-Yi Tu"'
Autor:
Huai-Jen Tsai, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Cheng-Yung Lin, Po-Hsiang Zhang, Ru-Yi Tu
Publikováno v:
Diagnostics, Vol 10, Iss 854, p 854 (2020)
Diagnostics
Volume 10
Issue 10
Diagnostics
Volume 10
Issue 10
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
Autor:
Hsiao-Jan Chen, Shu-Min Kao, Ya-Hui Chang, Chung-Lin Lee, Hsin-Yun Liu, Chih-Kuang Chuang, Mei-Ying Liu, Li-Yun Wang, Huey-Jane Ho, Ru-Yi Tu, Hsiang-Yu Lin, Shuan-Pei Lin, Fran Sisca, Yun-Ting Lo
Publikováno v:
Diagnostics
Volume 11
Issue 9
Diagnostics, Vol 11, Iss 1583, p 1583 (2021)
Volume 11
Issue 9
Diagnostics, Vol 11, Iss 1583, 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
Autor:
Chih-Kuang Chuang, Ru-Yi Tu, Wen-Hui Tsai, Yun-Ting Lo, Tung-Ming Chang, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Hsiang-Yu Lin, Shuan-Pei Lin, Dau-Ming Niu, Ya-Hui Chang
Publikováno v:
Diagnostics, Vol 9, Iss 4, p 140 (2019)
Diagnostics
Volume 9
Issue 4
Diagnostics
Volume 9
Issue 4
Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a fe