Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jasmine Chow"'
Autor:
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
Publikováno v:
Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare
Externí odkaz:
https://doaj.org/article/a0ac5c945e034849ab213862d513577a
Autor:
Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Objective To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods This study retrospectively reviewed the phenotypi
Externí odkaz:
https://doaj.org/article/a751dccace7643758afd7f2cea4c2452
Publikováno v:
Nature Reviews Endocrinology. 13:92-104
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8205eeec55bbbdac569a507a86c0d92
https://doi.org/10.1038/nrendo.2016.151
https://doi.org/10.1038/nrendo.2016.151
Publikováno v:
International Journal of Pediatric Endocrinology
Paragangliomas and phaeochromocytomas are exceptional rare tumours in children arising from the neural crest origin. A number of susceptibility genes have been identified to be associated with familial cases of paragangliomas and phaeochromocytomas.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f464d15a5d7a5f70ba32c6ed0acef9d
https://doi.org/10.1186/1687-9856-2013-s1-p112
https://doi.org/10.1186/1687-9856-2013-s1-p112
Publikováno v:
The Journal of Nutrition. 116:2363-2371
The effect of zinc deficiency on intestinal absorption of cholesterol was investigated in adult male rats fed 3.6 ppm of dietary zinc (ZD) and compared with pair-fed (PF) and ad-libitum (CT) controls fed 30.6 ppm of zinc for 10 to 12 wk. The intestin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17ed34cb8f02c0823211650237da851
https://doi.org/10.1093/jn/116.12.2363
https://doi.org/10.1093/jn/116.12.2363
Publikováno v:
International Journal of Pediatric Endocrinology. 2013, Vol. 2013 Issue Suppl 1, p1-1. 1p.