Hasil Pencarian - Sheila Suet‐Na Wong

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  1. 1
    Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

    Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency oleh Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung

    Diterbitkan 2021-07-01
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  2. 2
    High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

    High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes oleh Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung

    Diterbitkan 2021-12-01
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  3. 3
    Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale

    Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale oleh Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso, Cheuk Wing Fung

    Diterbitkan 2022-09-01
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  4. 4
    O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

    O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis oleh 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

    Diterbitkan 2024-01-01
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  5. 5
    CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

    CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers oleh 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

    Diterbitkan 2024-03-01
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  6. 6
    Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

    Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey oleh 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

    Diterbitkan 2024-03-01
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