Zobrazeno 1 - 10
of 294
pro vyhledávání: '"Dau‐Ming Niu"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101151- (2024)
Recurrent rhabdomyolysis, marked by skeletal muscle breakdown, can stem from various causes, including genetic disorders. We detail a patient of a 22-year-old male with carnitine palmitoyltransferase II (CPT-2) deficiency manifesting recurrent rhabdo
Externí odkaz:
https://doaj.org/article/93a83ab7b04e4c368ec87a964dbfed8d
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101072- (2024)
We are documenting the case of An 11-year-old girl who has been followed up at our out-patient clinic since birth with clinical presentations including intrauterine growth restriction, recurrent periodic fever in infancy, hypotonia, global developmen
Externí odkaz:
https://doaj.org/article/89a12267531b46fa8df2f8da2cce4910
Autor:
Huang-Yi Li, Hung-Yi Lin, Sheng-Kai Chang, Yu-Ting Chiu, Chung-Chien Hou, Tzu-Ping Ko, Kai-Fa Huang, Dau-Ming Niu, Wei-Chieh Cheng
Publikováno v:
JACS Au, Vol 4, Iss 3, Pp 908-918 (2024)
Externí odkaz:
https://doaj.org/article/fb946c22f7034938a0bf19d535a5bf81
Autor:
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Sridhar R. Allam, Yin-Hsiu Chien, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Derralynn A. Hughes
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral chaperone therapy migalastat to
Externí odkaz:
https://doaj.org/article/95cf0962320c4c5da4b8e36cf0ea24fc
Autor:
Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 m
Externí odkaz:
https://doaj.org/article/2531f008988d4f348d67169f6b92893c
Autor:
Hao‐Chih Chang, Ling Kuo, Shih‐Hsien Sung, Ching‐Yao Weng, Chun‐Ku Chen, Dau‐Ming Niu, Shih‐Ann Chen, Wen‐Chung Yu
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 1 (2023)
Background A previously underrecognized phenotype of left ventricular apical aneurysm (LVAA) has been increasingly identified in Fabry disease. This study explored LVAA's clinical prevalence and its prognostic implications over a long‐term follow
Externí odkaz:
https://doaj.org/article/2a13e870206a4cd8b2fe7865ecdef4d7
Autor:
Tsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, Yun-Ru Chen, Li-Zhen Chen, Shu-Ping Tsui, Ting-Wei Ernie Liao, An-Guor Wang, Chia-Feng Yang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100937- (2022)
A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnor
Externí odkaz:
https://doaj.org/article/d2250adafff4439281bc6965aebc7a85
Autor:
Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, Chia-Chen Chang, Wei-Sheng Lin, Hsiu-Lien Cheng, Shang-Liang Wu, Yen-Fu Cheng, Dau-Ming Niu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. Howev
Externí odkaz:
https://doaj.org/article/5d760c8acb9e4bc8be9575c3223da428
Publikováno v:
Pediatrics and Neonatology, Vol 64, Iss 1, Pp 91-92 (2023)
Externí odkaz:
https://doaj.org/article/19485a9df1c6458f8db5c32136b966ca
Autor:
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients with MPS II, and evaluat
Externí odkaz:
https://doaj.org/article/c4c18a996dc746a387503e1600fc2db7