Zobrazeno 31 - 40
of 97
pro vyhledávání: '"Pao Chin Chiu"'
Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism
Publikováno v:
Journal of the Formosan Medical Association, Vol 115, Iss 5, Pp 306-310 (2016)
Background/purposeCongenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in neonates and infants due to dysregulation of insulin secretion. This study aimed to review 20 years' experience in the management of Taiwanese child
Autor:
Pao Chin Chiu, Shuan-Pei Lin, Dau Ming Niu, Ming-Ren Chen, Wen Hui Tsai, Shan Miao Lin, Fuu Jen Tsai, Ju Li Lin, Chih Kuang Chuang, Shio Jean Lin, Wuh-Liang Hwu, Chia-Ying Chang, Chung-Lieh Hung, Hsiang-Yu Lin
Publikováno v:
Molecular Genetics and Metabolism. 117:431-437
While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain.Medical records and echocardio
Autor:
Guan-Bo Chen, Wen-Hsien Lu, I-Hsiu Liou, Sheng-Hui Tuan, Hung-Ya Huang, Pao-Chin Chiu, Ko-Long Lin, Shin-Yi Wu
Publikováno v:
Journal of Rehabilitation Medicine-Clinical Communications
Objective Fabry disease, a rare X-linked disorder, can lead to exercise intolerance. In Taiwan, the cardiac variant of Fabry disease has a significantly higher prevalence than the classic variant. The cardiac variant of Fabry disease primarily involv
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
Autor:
Pao Chin Chiu, Dau Ming Niu, Ju Li Lin, Chih Kuang Chuang, Hsiang-Yu Lin, Fuu Jen Tsai, Yu Yuan Ke, Chia-Chi Hsu, Wuh-Liang Hwu, Shuan-Pei Lin
Publikováno v:
Pediatrics and neonatology. 60(3)
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:
Fuu Jen Tsai, Wuh-Liang Hwu, Chih-Kuang Chuang, Yin-Hsiu Chien, Pao Chin Chiu, Dau Ming Niu, Hsiang-Yu Lin, Shuan-Pei Lin, Ming-Ren Chen, Shio Jean Lin, Ju Li Lin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Background Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients. M
Autor:
Pao Chin Chiu, Ming-Ren Chen, Kuo-Sheng Lee, Hsiang-Yu Lin, Hung-Ching Lin, Shou-Chuan Shih, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin
Publikováno v:
Molecular Genetics and Metabolism. 111:533-538
Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited.PTA was performed in 3
Autor:
Pao Chin Chiu, Chih-Kuang Chuang, Shio Jean Lin, Kuo-Sheng Lee, Shuan-Pei Lin, Shou-Chuan Shih, Dau-Ming Niu, Hsiang-Yu Lin, Ming-Ren Chen
Publikováno v:
Pediatric Pulmonology. 49:277-284
Summary. Background: The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the degradation of glycosaminoglycans. Impairment of pulmonary function is an important
Autor:
San-Ging Shu, Pao-Chin Chiu, Fu-Sung Lo, Mei-Chyn Chao, Shuan-Pei Lin, Yann-Jinn Lee, Min-Tzu Kuo, Ju-Li Lin
Publikováno v:
European Journal of Pediatrics. 168:919-923
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the