Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sheila Suet‐Na Wong"'
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:
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:
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:
Yeow-Kuan Chong, Lai-Ka Lee, Tsz-ki Ling, Han-Chih Hencher Lee, Chun-Hung Ko, Candace Yim Chan, Ching-Wan Lam, Chloe Mak, Nike Kwai-Cheung Lau, Cheuk-Wing Fung, Sheila Suet-Na Wong, Sidney Tam, Chun-yiu Law, K M Cheung, Chi-Kong Lai, Kin-Cheong Eric Yau, Albert Y W Chan, Ka-chung Wong
Publikováno v:
Clinica Chimica Acta. 521:40-44
Background Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc11642968b04a807262772013c3e60e
https://doi.org/10.1016/j.cca.2021.06.025
https://doi.org/10.1016/j.cca.2021.06.025
Autor:
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Jan A.M. Smeitink, Sheila Suet-Na Wong, Godfrey Chi-Fung Chan, Richard J. Rodenburg
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 15-22 (2021)
JIMD Reports
Jimd Reports, 60, 15-22
Jimd Reports, 60, 1, pp. 15-22
JIMD Reports
Jimd Reports, 60, 15-22
Jimd Reports, 60, 1, pp. 15-22
Contains fulltext : 237483.pdf (Publisher’s version ) (Open Access) 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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12a0373638e4b6434bf65e8a114a7f9
https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b
https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b
Autor:
Virginia Wong, Anna Ka-Yee Kwong, Cheuk-Wing Fung, Vanessa Loi-Yan Chu, Jan A.M. Smeitink, Saskia Koene, Sheila Suet-Na Wong
Publikováno v:
Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)
Epilepsia Open
Epilepsia Open, 6, 685-693
Epilepsia Open, 6, 4, pp. 685-693
Epilepsia Open
Epilepsia Open, 6, 685-693
Epilepsia Open, 6, 4, pp. 685-693
Contains fulltext : 241407.pdf (Publisher’s version ) (Open Access) 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 inte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e39996b061f24c2f163f5895ad350f
https://doi.org/10.1002/epi4.12534
https://doi.org/10.1002/epi4.12534
Autor:
Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jam A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Sheila Suet-Na Wong, Shuk-Mui Tai, Victor Chi-Man Chan, Che-Kwan Ma, Tsiu-Hang Sharon Fung, Shun-Ping Wu, WK Chan, Brian Hon-Yin Chung, Cheuk-wing Fung
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 crucial for gu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8abf1db67e9dcdc1316872c588d761f5
https://doi.org/10.21203/rs.3.rs-23585/v2
https://doi.org/10.21203/rs.3.rs-23585/v2
Autor:
Sheila Suet-na Wong, Kwing-wan Tsui, Eric Kin-Cheong Yau, Sophelia H. S. Chan, Eric Y. T. Chan, Sharon Wan-wah Cherk, Kam-hung Ma, Eva Lai-Wah Fung, Alvin Chi-chung Ho, Sharon T. H. Fung, Virginia Wong
Publikováno v:
Brain and Development. 40:473-479
Aim The study aims to analyze the incidence, clinical features, investigation findings and treatment outcomes of anti-N-methyl- d -aspartate receptor encephalitis in children from Hong Kong. Method A retrospective study was carried out on paediatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8aa708b9f369a17ee171dabab610daa
https://doi.org/10.1016/j.braindev.2018.02.005
https://doi.org/10.1016/j.braindev.2018.02.005