Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Mei Kwun Kwok"'
Autor:
Olivia Miu Yung Ngan, Cheuk Wing Fung, Mei Kwun Kwok, Eric Kin Cheong Yau, Shing Yan Robert Lee, Ho-Ming Luk, Kiran Moti Belaramani
Publikováno v:
BMC Public Health, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Newborn screening programmes offer an opportunity to obtain dried blood spots (DBS) cards that contain a wealth of biological information that can be stored for long periods and have potential benefits for research and quality ass
Externí odkaz:
https://doaj.org/article/16b2e42265a444058116596d1072fa6e
Autor:
Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau, Ho Ming Luk, Chloe Miu Mak, Matthew Chun Wing Yeung, Olivia Miu Yung Ngan
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 45 (2023)
Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as q
Externí odkaz:
https://doaj.org/article/654c048ae5eb4b4397e8848a8fab1fbf
Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia
Autor:
Ka-chung Wong, Tsz-ki Ling, Grace Wing-kit Poon, Nike Kwai-Cheung Lau, Anne Mei-kwun Kwok, Chun-yiu Law, Ching-Wan Lam
Publikováno v:
Pathology. 54:505-508
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5d0bf44300a12ad83bb6e183849783c
https://doi.org/10.1016/j.pathol.2021.07.013
https://doi.org/10.1016/j.pathol.2021.07.013
Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). Methods: This is an international retrospective questionnaire study on t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::55abcd3702c75d5ae349339b83de4103
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220819
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220819
Publikováno v:
Pediatric emergency care. 37(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fba9a9014d314d842877253bf86662
https://pubmed.ncbi.nlm.nih.gov/34180862
https://pubmed.ncbi.nlm.nih.gov/34180862
Akademický článek
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Autor:
Hon, Kam Lun Ellis, Leung, Karen Ka Yan, Kwok, Anne Mei-Kwun, Belaramani, Kiran M, Mei-Kwun Kwok, Anne
Publikováno v:
Pediatric Emergency Care; Jul2021, Vol. 37 Issue 7, pe422-e423, 2p
Publikováno v:
Pediatric Emergency Care; Jul2021, Vol. 37 Issue 7, pe422-e423, 2p
Autor:
Jonas Abdel-Khalik, Michael Ogundare, Peter J. Crick, Brian W. Bigger, William J. Griffiths, Libin Xu, Ingemar Björkhem, Andrew A. M. Morris, Yuqin Wang, Mei Kwun Kwok, Ned A. Porter, Akira Honda, Cedric H.L. Shackleton, Peter E. Clayton, Karin Tuschl
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology.
Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholestero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8b0038bbff5bdd58e803e1091d3b26
Autor:
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 19 (2024)
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening
Externí odkaz:
https://doaj.org/article/ecab7e311456405d90e31176b6830c28