Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Cheuk-Wing Fung"'
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:
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:
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
Autor:
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H.-Y. Chung, Marcello Bellusci, Ertan Mayatepek, Dirk Klee, Felix Distelmaier
Publikováno v:
Antioxidants, Vol 12, Iss 3, p 718 (2023)
Coenzyme Q10 (CoQ10) is an endogenously synthesized lipid molecule. It is best known for its role as a cofactor within the mitochondrial respiratory chain where it functions in electron transfer and ATP synthesis. However, there are many other cellul
Externí odkaz:
https://doaj.org/article/32df7fb6fc4f4a64a575318dfcfb0499
Autor:
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study
Externí odkaz:
https://doaj.org/article/a75fac8f007d420a85ab11522cca237a
Autor:
Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)
Abstract Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cruci
Externí odkaz:
https://doaj.org/article/8385714f30b847afbf46e0c0a43d9134
Autor:
Anna K.‐Y. Kwong, Annie T.‐G. Chiu, Mandy H.‐Y. Tsang, Kin‐Shing Lun, Richard J. T. Rodenburg, Jan Smeitink, Brian H.‐Y. Chung, Cheuk‐Wing Fung
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 23-29 (2019)
Abstract Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ10 biosynthesis pathway. COQ7‐associated CoQ10 deficiency is very rare
Externí odkaz:
https://doaj.org/article/6c42e79c38944a63a00bf138c92f9c50
Autor:
Werner JH Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J Rodenburg, Peter HGM Willems, Jan AM Smeitink
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 4, Pp 311-327 (2016)
Abstract This review presents our current understanding of the pathophysiology and potential treatment strategies with respect to mitochondrial disease in children. We focus on pathologies due to mutations in nuclear DNA‐encoded structural and asse
Externí odkaz:
https://doaj.org/article/ffccdcbae0794df5bbe1c999a2b6c1f3