Zobrazeno 1 - 10
of 10
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:
Sisca Fran, Meng Che Tsai, Hsiang-Yu Lin, Ya-Hui Chang, Chia-Ying Chang, Chung-Lin Lee, Li-Ping Tsai, Pao-Chin Chiu, Chih-Kuang Chuang, Yen Yin Chou, Tzu-Hung Chu, Yu-Wen Pan, Ru-Yi Tu, Chen-Hao Lee, Hui-Pin Hsiao, Chia-Feng Yang, Mei-Chyn Chao, Dau-Ming Niu, Pen-Hua Su, Shuan-Pei Lin
Publikováno v:
Journal of Personalized Medicine
Volume 11
Issue 11
Journal of Personalized Medicine, Vol 11, Iss 1197, p 1197 (2021)
Volume 11
Issue 11
Journal of Personalized Medicine, Vol 11, Iss 1197, p 1197 (2021)
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by severe intrauterine growth retardation, poor postnatal growth, characteristic facial features, and body asymmetry. Hypomethylation of
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:
Shuan-Pei Lin, Yun-Ting Lo, Hsiang-Yu Lin, Chung-Lin Lee, Ru-Yi Tu, Chih-Kuang Chuang, Ya-Hui Chang, Huei-Ching Chiu
Publikováno v:
Children
Children, Vol 8, Iss 952, p 952 (2021)
Children, Vol 8, Iss 952, 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
Autor:
Shuan-Pei Lin, Chih-Kuang Chuang, Yun-Ting Lo, Hsiang-Yu Lin, Ru-Yi Tu, Ya-Hui Chang, Chin-Hui Su, Huei-Ching Chiu, Chung-Lin Lee, Kuo-Sheng Lee
Publikováno v:
International Journal of Medical Sciences
Background: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders wherein glycosaminoglycans accumulate because the enzymes that degrade them are insufficient. The earliest symptoms, which are the main reasons for seeking consultation, are oto
Autor:
Sisca Fran, Sung-Fa Huang, Ya-Hui Chang, Shin-Yu Tsai, Chih-Kuang Chuang, Fang-Jie Wei, Schu-Rern Chern, Hsiang-Yu Lin, Chung-Lin Lee, Shuan-Pei Lin, Ru-Yi Tu, Yun-Ting Lo
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 114 (2019)
Volume 21
Issue 1
International Journal of Molecular Sciences, Vol 21, Iss 1, p 114 (2019)
Hunter syndrome (mucopolysaccharidosis II
MPS II) is caused by a defect of the iduronate-2-sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese MPS II phenotypes. In this study, we summarized genotype and phenoty
MPS II) is caused by a defect of the iduronate-2-sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese MPS II phenotypes. In this study, we summarized genotype and phenoty
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:
Pao Chin Chiu, Tung Ming Chang, Wuh-Liang Hwu, Tzu Lin Chen, Yun Ting Lo, Chung Lin Lee, Shuan-Pei Lin, Chih-Kuang Chuang, Yi Ya Fang, Hsiang-Yu Lin, Dau Ming Niu, Shio Jean Lin, Ru Yi Tu, Fuu Jen Tsai
Publikováno v:
American journal of medical genetics. Part A. 176(9)
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) has a variable age of onset and variable rate of progression. However, information regarding the natural history of this disorder in Asian populations is limited. A retrospective analysis
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