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8 results on '"Ma, Kam-hung"'

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

Author

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, and Fung, Cheuk-wing

Published
2023
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2. Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region

Author

Chiu, Annie Ting Gee, Chan, Ricky Wing Ki, Yau, Maggie Lo Yee, Yuen, Angus Chi Lap, Lam, Alva King Fai, Lau, Shirley Wai Yin, Lau, Alan Ming Chung, Fung, Sharon Tsui Hang, Ma, Kam Hung, Lau, Christine Wai Ling, Yau, Man Mut, Ko, Chun Hung, Tsui, Kwing Wan, Ma, Che Kwan, Tai, Shuk Mui, Yau, Eric Kin Cheong, Fung, Eva, Wu, Shun Ping, Kwong, Karen Ling, and Chan, Sophelia Hoi Shan

Published
2022
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4. Additional file 1 of Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

Author

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, and Fung, Cheuk-wing

Abstract

Additional file 1. Supplementary table 1. Keywords and/or ICD codes used for recruiting patients through CDARS. Supplementary table 2. Institutional Review Board (IRB) numbers of involved hospitals in Hong Kong. Supplementary table 3. Clinical presentations by system and age distribution of patients at disease onset. Supplementary table 4. NMDC score for cases with histological examination done on biopsy (total 51). Supplementary table 5. Characteristics of death cases (total 44). Supplementary table 6. Detail of cases with sudden death (total 10). Supplementary table 7. Types of tissue samples obtained by invasive procedures (total 59 patients) and the examination performedCharacteristics.

Published
2023
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5. Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape

Author

Wong, Tsz-sum, primary, Belaramani, Kiran M, additional, Chan, Chun-kong, additional, Chan, Wing-ki, additional, Chan, Wai-lun Larry, additional, Chang, Shek-kwan, additional, Cheung, Sing-ngai, additional, Cheung, Ka-yin, additional, Cheung, Yuk-fai, additional, Chong, Shuk-ching Josephine, additional, Chow, Chi-kwan Jasmine, additional, Chung, Hon-yin Brian, additional, Fan, Sin-ying Florence, additional, Fok, Wai-ming Joshua, additional, Fong, Ka-wing, additional, Fung, Tsui-hang Sharon, additional, Hui, Kwok-fai, additional, Hui, Ting-hin, additional, Hui, Joannie, additional, Ko, Chun-hung, additional, Kwan, Min-chung, additional, Kwok, Mei-Kwun Anne, additional, Kwok, Sung-shing Jeffrey, additional, Lai, Moon-sing, additional, Lam, Yau-on, additional, Lam, Ching-wan, additional, Lau, Ming-chung, additional, Law, Chun-yiu Eric, additional, Lee, Wing-cheong, additional, Lee, Han-chih Hencher, additional, Lee, Chin-nam, additional, Leung, Kin-hang, additional, Leung, Kit-yan, additional, Li, Siu-hung, additional, Ling, Tsz-ki Jacky, additional, Liu, Kam-tim Timothy, additional, Lo, Fai-man, additional, Lui, Hiu-tung, additional, Luk, Ching-on, additional, Luk, Ho-ming, additional, Ma, Che-kwan, additional, Ma, Karen, additional, Ma, Kam-hung, additional, Mew, Yuen-ni, additional, Mo, Alex, additional, Ng, Sui-fun, additional, Poon, Wing-kit Grace, additional, Rodenburg, Richard, additional, Sheng, Bun, additional, Smeitink, Jan, additional, Szeto, Cheuk-ling Charing, additional, Tai, Shuk-mui, additional, Tse, Choi-ting Alan, additional, Tsung, Li-yan Lilian, additional, Wong, Ho-ming June, additional, Wong, Wing-yin Winnie, additional, Wong, Kwok-kui, additional, Wong, Suet-na Sheila, additional, Wong, Chun-nei Virginia, additional, Wong, Wai-shan Sammy, additional, Wong, Chi-kin Felix, additional, Wu, Shun-ping, additional, Wu, Hiu-fung Jerome, additional, Yau, Man-mut, additional, Yau, Kin-cheong Eric, additional, Yeung, Wai-lan, additional, Yeung, Jonas Hon-ming, additional, Yip, Kin-keung Edwin, additional, Young, Pui-hong Terence, additional, Gao, Yuan, additional, Yuen, Yuet-ping Liz, additional, Yuen, Chi-lap, additional, and Fung, Cheuk Wing, additional

Published
2022
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8. Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome.

Author

Ma KH, Chow SN, and Yau FT

Subjects
Abnormalities, Multiple genetics, Child, Corticotropin-Releasing Hormone, Cosyntropin, Dermatoglyphics, Fingers abnormalities, Hormones blood, Humans, Hypoglycemia complications, Hyponatremia complications, Intellectual Disability genetics, Male, Seizures complications, Syndrome, Water-Electrolyte Imbalance genetics, Water-Electrolyte Imbalance physiopathology, Abnormalities, Multiple physiopathology, Adrenocorticotropic Hormone deficiency, Intellectual Disability physiopathology
Abstract

A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.

Published
2005
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