Zobrazeno 1 - 10
of 132
pro vyhledávání: '"Cheuk‐Wing Fung"'
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:
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101023- (2024)
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerativ
Externí odkaz:
https://doaj.org/article/3f9340edc6f641e7b32c95cdf0c3bfbd
Autor:
Brian Hon-Yin Chung, Anna Ka Yee Kwong, Martin Man Chun Chui, Christopher CY Mak, Ines Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente Yépez
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101019- (2024)
Externí odkaz:
https://doaj.org/article/2358715853e7449d81ca1ac3b61a24f1
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
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
Autor:
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 23 (2024)
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding
Externí odkaz:
https://doaj.org/article/9e174954a012423e9418a84e92790b6e
Autor:
Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso, Cheuk Wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of life (HRQOL) is not sys
Externí odkaz:
https://doaj.org/article/cf6d7de17d3d426b9abd00bfd9be49db
Autor:
Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung
Publikováno v:
Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)
Abstract Objective Dravet syndrome (DS) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild‐to‐severe intellectual disabilities. Fibroblast growth factor 21 (FGF‐
Externí odkaz:
https://doaj.org/article/ade30fff07e044ef82b2ff57c48f25fe
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
Autor:
Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 15-22 (2021)
Abstract Background d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase. Excessive amount of d‐lactate causes d‐lactate acidosi
Externí odkaz:
https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b