Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hoi Ning Cheung"'
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:
Chi Chung Shek, Jacqueline K. K. Sit, Hoi Ning Cheung, Mei Tik Leung, Yan Ping Heidi Iu, Winnie K. Y. Chan
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:915-920
Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bac98a64cffece76a573b6057051b82
https://doi.org/10.1515/jpem-2019-0028
https://doi.org/10.1515/jpem-2019-0028
Autor:
Yui-Shing Cheung, Hoi-Ning Cheung, Mei-Tik Leung, Sammy Pak-Lam Chen, Toby Chun Hei Chan, Wai-Hon Li, Assumpta Sze-Man Wong, Ling-Yin Hung, C C Shek
Publikováno v:
F1000Research
Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f8ab33f4a03ed297ba8f94176e90f
http://europepmc.org/articles/PMC8240598
http://europepmc.org/articles/PMC8240598
Autor:
Ling-Yin Hung, Mei-Tik Leung, Toby Chun-Hei Chan, Hoi-Ning Cheung, Wai-Hon Li, Yui-Shing Cheung, Assumpta Sze-Man Wong, Chi-Chung Shek, Sammy Pak-Lam Chen
Publikováno v:
F1000Research, Vol 10 (2021)
Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::e20d55f34c04244274ed34c92784119d
https://f1000research.com/articles/10-458/v1
https://f1000research.com/articles/10-458/v1
Autor:
Hoi Ning Cheung, Wing Lai Tony Mak, Mei Tik Stella Leung, Pak Lam Sammy Chen, Chun Hei Toby Chan, Hok Fung Tong
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 519
Background Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare inherited disorder characterised by hyponatraemia. To date, most reported cases are Caucasians with gain-of-function variants in AVPR2, an X-linked gene which encodes the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f8fc9fd62e9dd618fe652798cbf7da4
https://pubmed.ncbi.nlm.nih.gov/33984325
https://pubmed.ncbi.nlm.nih.gov/33984325
Publikováno v:
Journal of the Endocrine Society
Isolated 17,20-lyase deficiency may be caused by mutations in the CYP17A1 (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. Of these, mutations in the CYB5A gene ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49aa64c51e6be7322feca6af3d928820
https://doi.org/10.1210/jendso/bvz016
https://doi.org/10.1210/jendso/bvz016