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Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

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 phenotypic and molecular characteristics of MD patients from parti...

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Detalles Bibliográficos
Autores principales: Wong, Tsz-sum, Belaramani, Kiran M., Chan, Chun-kong, Chan, Wing-ki, Chan, Wai-lun Larry, Chang, Shek-kwan, Cheung, Sing-ngai, Cheung, Ka-yin, Cheung, Yuk-fai, Chong, Shuk-ching Josephine, Chow, Chi-kwan Jasmine, Chung, Hon-yin Brian, Fan, Sin-ying Florence, Fok, Wai-ming Joshua, Fong, Ka-wing, Fung, Tsui-hang Sharon, Hui, Kwok-fai, Hui, Ting-hin, Hui, Joannie, Ko, Chun-hung, Kwan, Min-chung, Kwok, Mei-kwan Anne, Kwok, Sung-shing Jeffrey, Lai, Moon-sing, Lam, Yau-on, Lam, Ching-wan, Lau, Ming-chung, Law, Chun-yiu Eric, Lee, Wing-cheong, Lee, Han-chih Hencher, Lee, Chin-nam, Leung, Kin-hang, Leung, Kit-yan, Li, Siu-hung, Ling, Tsz-ki Jacky, Liu, Kam-tim Timothy, Lo, Fai-man, Lui, Hiu-tung, Luk, Ching-on, Luk, Ho-ming, Ma, Che-kwan, Ma, Karen, Ma, Kam-hung, Mew, Yuen-ni, Mo, Alex, Ng, Sui-fun, Poon, Wing-kit Grace, Rodenburg, Richard, Sheng, Bun, Smeitink, Jan, Szeto, Cheuk-ling Charing, Tai, Shuk-mui, Tse, Choi-ting Alan, Tsung, Li-yan Lilian, Wong, 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, Wu, Shun-ping, Wu, Hiu-fung Jerome, Yau, Man-mut, Yau, Kin-cheong Eric, Yeung, Wai-lan, Yeung, Hon-ming Jonas, Yip, Kin-keung Edwin, Young, Pui-hong Terence, Yuan, Gao, Yuen, Yuet-ping Liz, Yuen, Chi-lap, Fung, Cheuk-wing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979401/
https://www.ncbi.nlm.nih.gov/pubmed/36859275
http://dx.doi.org/10.1186/s13023-023-02632-6