Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kin-Cheong Eric Yau"'
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:
Han-Chih Hencher Lee, Nike Kwai-Cheung Lau, Chun-Wing Yeung, Sui-Fun Grace Ng, Kin-Cheong Eric Yau, Chloe Miu Mak
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 18, Pp 2262-2264 (2018)
Externí odkaz:
https://doaj.org/article/ab72ae3ae10e4665b72633d18371de63
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:
Frank Ying-Kit Leung, Luen-Cheung Ho, Siu-Ki Timothy Chan, Tsui-Hang Sharon Fung, Hoi-Ki Cynthia Leung, Han-Chih Hencher Lee, Sammy Pak-Lam Chen, Kin-Cheong Eric Yau, Chloe Miu Mak, Shun Wong, Wai-Nang Yau, Kwok-Fan Kwan, Ka-Wah Li
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 78:854-864
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0edbacf9155e062810f819eefaaba4
https://doi.org/10.1093/jnen/nlz056
https://doi.org/10.1093/jnen/nlz056
Autor:
Nike Kwai-Cheung Lau, Kin-Cheong Eric Yau, Chloe Miu Mak, Han-Chih Hencher Lee, Chun-Wing Yeung, Sui-Fun Grace Ng
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 18, Pp 2262-2264 (2018)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f33338ba06c0c333b21a33d0659a51
https://doi.org/10.4103/0366-6999.240812
https://doi.org/10.4103/0366-6999.240812
Autor:
Tsz-wai Ho, Kin-Cheong Eric Yau, Chloe Miu Mak, Chi-Kong Lai, Chor-Kwan Ching, Chun-Yiu Law, Ching-Wan Lam
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 438
Beta-ketothiolase deficiency is a rare inborn errors of metabolism (IEM) affecting the catabolism of isoleucine, characterized by severe ketoacidosis in children of 6 to 24months old. A prompt diagnosis is of paramount importance as the metabolic dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf80a4d272b3fd571fb039414f3afd7
https://pubmed.ncbi.nlm.nih.gov/25195009
https://pubmed.ncbi.nlm.nih.gov/25195009
Autor:
Y P Yuen, Chloe Miu Mak, Han-Chih Hencher Lee, Sidney Tam, Kin-Cheong Eric Yau, Kwok-Yin Chan, Tak-Shing Siu, Albert Yan-Wo Chan, Ching-Wan Lam, Chi-Kong Lai
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 413(1-2)
Background The diagnosis of aromatic l -amino acid decarboxylase (AADC) deficiency, one of the pediatric neurotransmitter disorders, is classically made with plasma enzyme level or cerebrospinal fluid (CSF) neurotransmitter profile, while both are te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e310c5ddbbe12960a3c9aa19bc53a7b5
https://pubmed.ncbi.nlm.nih.gov/21963339
https://pubmed.ncbi.nlm.nih.gov/21963339