Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Pao Chin Chiu"'
Autor:
Mei Chyn Chao, Pao Chin Chiu, Siew Lee Wong, Fuu Jen Tsai, Wei De Lin, Ni-Chung Lee, Yu Yuan Ke, Hui Pin Hsiao, Wuh-Liang Hwu, Yin-Hsiu Chien, Chung Hsing Wang, Shao Yin Chu, Beng Huat Lau, Rai Hseng Hsu
Publikováno v:
Journal of the Formosan Medical Association, Vol 118, Iss 1, Pp 142-147 (2019)
Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenot
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
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:
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:
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
Publikováno v:
Journal of the Chinese Medical Association, Vol 71, Iss 9, Pp 455-460 (2008)
Background Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that involves ectodermal tissues of multiple systems. Previous reports are few in Taiwan. To contribute toward better understanding of IP, we describe and discuss the clinica
Autor:
Mei-Hwei Chang, Pao-Chin Chiu, Wuh-Liang Hwu, Ni-Chung Lee, Hung-Wen Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yuan-Te Huang
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 47:187-192
OBJECTIVES To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). PATIENTS AND METHODS Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in