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Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inhe... by Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
Published 2022-09-01
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Case Report: The first familial hCG syndrome in a Chinese family [version 1; peer review: 2 approved] by Ling-Yin Hung, Mei-Tik Leung, Toby Chun-Hei Chan, Hoi-Ning Cheung, Wai-Hon Li, Yui-Shing Cheung, Assumpta Sze-Man Wong, Chi-Chung Shek, Sammy Pak-Lam Chen
Published 2021-06-01
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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism by Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang
Published 2024-03-01
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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Published 2024-03-01
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