Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Angel O.k. Chan"'
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
WOS:000385025700017
PubMed ID: 27125267
Isolated aldosterone synthase deficiency may result in life-threatening saltwasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synth
PubMed ID: 27125267
Isolated aldosterone synthase deficiency may result in life-threatening saltwasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115ec6ceb2c4908dafaf54b3f96b6673
https://doi.org/10.4274/jcrpe.2824
https://doi.org/10.4274/jcrpe.2824
Autor:
Angel O.K. Chan
Publikováno v:
Steroids. 78:726-730
Background Unclassified genetic variants are commonly encountered in molecular diagnostic service. In silico analyses using web-based predictive programs may provide information on the nature of the genetic variants, and help to prioritize novel vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::059125f1f745a16dbd8f283cc025b8db
https://doi.org/10.1016/j.steroids.2013.04.002
https://doi.org/10.1016/j.steroids.2013.04.002
Autor:
Wiebke Arlt, W M But, Ian T. Rose, Angela E Taylor, Nils Krone, Vivek Dhir, Angel O.k. Chan, Silvia Parajes
Publikováno v:
European Journal of Endocrinology
Context Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, the conversion of cholesterol to pregnenolone. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6e4246040f53334a01b8ec3f3bb4231
https://doi.org/10.1530/eje-12-0450
https://doi.org/10.1530/eje-12-0450
Autor:
P.Y. Loung, C.W. Cheng, W.Y. Tse, L.M. Wong, Y.Y. Lam, S.C. Tiu, Angel O.K. Chan, K.L. Ng, C.Y. Lee, W.M. But, Ruth Charlton, K.F. Lee, Ian R. Berry, C.C. Shek, Rebecca Brown, Y.C. Ho
Publikováno v:
Steroids. 76:1057-1062
Background Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 gene. Objective To elucidate the genetic basis of 21-hydroxylase-deficient CAH in Hong Kong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35937d4e3aecb29f0c999187a18fcd4d
https://doi.org/10.1016/j.steroids.2011.04.010
https://doi.org/10.1016/j.steroids.2011.04.010
Autor:
Chi Chung Shek, Angel O.K. Chan, Heidi Yan Ping Iu, Gordon P.T. Chan, Chi Yuen Cheung, Ka Foon Chau
Publikováno v:
Clinical Kidney Journal
Both lipoprotein glomerulopathy (LPG) and fibrillary glomerulonephritis (FGN) are rare causes of end-stage renal disease (ESRD), and the literature concerning the outcome of kidney transplant in patients with LPG or FGN is scarce. We report a patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf8f4c06a79c6b769ddd06a9e04f767
https://doi.org/10.1093/ckj/sfu058
https://doi.org/10.1093/ckj/sfu058
Publikováno v:
Steroids. 73:828-837
Background Urinary steroid profiling by GC or GC–MS are established clinical tools to complement other biochemical tests in the diagnosis and investigation of a wide range of adrenocortical disorders, but normative data on adults using the more spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfbf87c26ad12aa40cbd42428a76c485
https://doi.org/10.1016/j.steroids.2008.03.004
https://doi.org/10.1016/j.steroids.2008.03.004
Publikováno v:
Journal of Clinical Pathology. 61:632-636
Aim: Setting up reference intervals from the local service populations is one of the major responsibilities of clinical laboratories. Yet, this task is difficult to achieve because it is costly and time consuming when compared with validating referen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a53026cbfa87630c4e164b4bc84563
https://doi.org/10.1136/jcp.2007.053637
https://doi.org/10.1136/jcp.2007.053637
Autor:
Teresa Kam Chi Tsui, YY Lam, Ching Yin Lee, C C Shek, Betty Wai Man But, Almen Lai Na Lam, Angel O.K. Chan, Joanna Yuet Ling Tung, Wing Yee Tse, Pik To Cheung, Kwok Leung Ng, Yuk Kit Chan, Elaine Yin Wah Kwan
Publikováno v:
Clinical chemistry. 59(5)
BACKGROUND 5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aac98455a148fcc11cf2b08d17b5653
https://pubmed.ncbi.nlm.nih.gov/23513070
https://pubmed.ncbi.nlm.nih.gov/23513070
Autor:
Angel O.K. Chan, C.C. Shek
Publikováno v:
Clinical biochemistry. 46(4-5)
Background Deficiency in any one of the steroidogenic enzymes may result in congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD). Urinary steroid profiling (USP) can quantify metabolites of all relevant steroids simultaneously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a740de10154d5bfad7839edbd74bd52
https://pubmed.ncbi.nlm.nih.gov/23261836
https://pubmed.ncbi.nlm.nih.gov/23261836
Autor:
Angel O.K. Chan, Norman F. Taylor
Publikováno v:
Clinical chemistry. 58(8)
To the Editor: The steroid metabolic disorder 21-hydroxylase deficiency (21OHD)1 is increasingly being included in blood spot–based newborn-screening programs. Screening most commonly relies on 17-hydroxyprogesterone immunoassay, but it gives a hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7154bfe22ffcccd4905a00da66ce4752
https://pubmed.ncbi.nlm.nih.gov/22273564
https://pubmed.ncbi.nlm.nih.gov/22273564