Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ru-Yi Tu"'
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
Autor:
Ya-Hui Chang, Hui-Pin Hsiao, Meng Che Tsai, Chung-Lin Lee, Pao Chin Chiu, Chia-Feng Yang, Chih-Kuang Chuang, Chia-Ying Chang, Hsiang-Yu Lin, Tzu-Hung Chu, Yen Yin Chou, Sisca Fran, Dau-Ming Niu, Ru-Yi Tu, Shuan-Pei Lin
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 1066, p 1066 (2021)
Journal of Personalized Medicine
Volume 11
Issue 11
Journal of Personalized Medicine
Volume 11
Issue 11
Background: Beckwith-Wiedemann syndrome (BWS
OMIM 130650) is a rare overgrowth syndrome with tumor predisposition resulting from the abnormal expression or function of imprinted genes of the chromosome 11p15.5 imprinting gene cluster. The aim of
OMIM 130650) is a rare overgrowth syndrome with tumor predisposition resulting from the abnormal expression or function of imprinted genes of the chromosome 11p15.5 imprinting gene cluster. The aim of
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
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:
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
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