Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype von Au, Lisa Wing Chi, Lee, Hencher Han Chih, Sheng, Bun, Chan, Kwok Yin, Yau, Eric Kin Cheong, Mak, Chloe Miu, Chan, Albert Yan Wo, Chan, Anne Yin Yan, Lau, Claire Ka Yee, Mok, Vincent Chung Tong, Lam, Ching Wan

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NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome von Lam, Ching-Wan, Law, Chun-Yiu, Leung, Ka-Fei, Lai, Chi-Kong, Pak-lam Chen, Sammy, Chan, Bosco, Chan, Kwok-yin, Yuen, Yuet-ping, Mak, Chloe Miu, Yan-wo Chan, Albert

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Increasing the recipient benefit/donor risk ratio by lowering the graft size requirement for living donor liver transplantation von Chan, See Ching, Fan, Sheung Tat, Chok, Kenneth S. H., Sharr, William W., Dai, Wing Chiu, Fung, James Y. Y., Chan, Kwok Yin, Balsarkar, Dharmesh J., Lo, Chung Mau

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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study von Lee, Han-Chih Hencher, Lai, Chi-Kong, Yau, Kin-Cheong Eric, Siu, Tak-Shing, Mak, Chloe Miu, Yuen, Yuet-Ping, Chan, Kwok-Yin, Tam, Sidney, Lam, Ching-Wan, Chan, Albert Yan-Wo

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Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency von Yeung, Wai-lan, Wong, Virginia C. N., Chan, Kwok-yin, Hui, Joannie, Fung, Cheuk-wing, Yau, Eric, Ko, Chun-hung, Lam, Ching-wan, Mak, Chloe M., Siu, Simon, Low, Louis

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Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and... von Mok, Ngai-Shing, Lam, Ching-Wan, Fong, Nai-Chung, Hui, Yim-Wo, Choi, Yuen-Choi, Chan, Kwok-Yin

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Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong von Siu, Wai-Kwan, Lam, Ching-Wan, Mak, Chloe Miu, Lau, Elizabeth Tak-Kwong, Tang, Mary Hoi-Yin, Tang, Wing-Fai, Poon-Mak, Rachel Sui-Man, Lee, Chi-Chiu, Hung, Se-Fong, Leung, Patrick Wing-Leung, Kwong, Karen Ling, Yau, Eric Kin-Cheong, Ng, Grace Sui-Fun, Fong, Nai-Chung, Chan, Kwok-Yin

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Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II von Lee, Han-Chih Hencher, Lai, Chi-Kong, Siu, Tak-Shing, Yuen, Yuet-Ping, Chan, Kwok-Yin, Chan, Albert Yan-Wo, Tam, Sidney, Mak, Chloe Miu, Lam, Ching-Wan

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A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b von Lam, Ching-Wan, Chan, Kwok-Yin, Tong, Sui-Fan, Chan, Bik-Yan, Chan, Yuk-Tat, Chan, Yan-Wo

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International collaboration to assess the risk of Guillain Barré Syndrome following Influenza A (H1N1) 2009 monovalent vaccines von Dodd, Caitlin N, Romio, Silvana A, Black, Steven, Vellozzi, Claudia, Andrews, Nick, Sturkenboom, Miriam, Zuber, Patrick, Hua, Wei, Bonhoeffer, Jan, Buttery, Jim, Crawford, Nigel, Deceuninck, Genevieve, de Vries, Corinne, De Wals, Philippe, Gimeno, M. Victoria Gutierrez, Heijbel, Harald, Hughes, Hayley, Hur, Kwan, Hviid, Anders, Kelman, Jeffrey, Kilpi, Tehri, Chuang, S.K, Macartney, Kristine, Rett, Melisa, Lopez-Callada, Vesta Richardson, Salmon, Daniel, Sanchez, Francisco Gimenez, Sanz, Nuria, Silverman, Barbara, Storsaeter, Jann, Thirugnanam, Umapathi, van der Maas, Nicoline, Yih, Katherine, Zhang, Tao, Izurieta, Hector

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DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay von Yuen, Yuet-Ping, Lam, Ching-Wan, Chan, Kwok-Yin, Lai, Chi-Kong, Tong, Sui-Fan, Chan, Yan-Wo

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Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia von Poon, Wing-Tat, Chan, Kwok-Yin, Au, Kam-Ming, Tong, Sui-Fan, Chan, Yan-Wo, Lam, Ching-Wan, Chow, Chun-Bong

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A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia von Lee, Shing-Yan, Chan, Kwok-Yin, Chan, Albert Y W, Lai, Chi-Kong

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Cervical myelopathy in an adolescent with hallervorden-spatz disease von Fung, Genevieve Po Gee, Chan, Kwok Yin

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Subacute sclerosing panencephalitis in children: prevalence in South China von Ip, Patrick, Chung, Brian H.Y, Wong, Virginia C.N, Chan, Kwok-Yin

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DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography von Lam, Ching-Wan, Li, Chi-Keung, Lai, Chi-Kong, Tong, Sui-Fan, Chan, Kwok-Yin, Ng, Grace Sui-Fun, Yuen, Yuet-Ping, Cheng, Anna Wai-Fun, Chan, Yan-Wo

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Evaluation of sleep disturbances in children with epilepsy: A questionnaire-based case–control study von Chan, Bosco, Cheong, Eric Yau Kin, Ng, Sui Fun Grace, Chan, Yick Chun, Lee, Qun Ui, Chan, Kwok Yin

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Fifteen years of acute flaccid paralysis surveillance in Hong Kong: Findings from 1997 to 2011 von National Committee for the Certification of Wild Poliovirus Eradication in Hong Kong

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Increasing the recipient benefit/donor risk ratio by lowering the graft size requirement for living donor liver transplantation: Lowering Graft Size Requirement Lowers Donor Risk von Chan, See Ching, Fan, Sheung Tat, Chok, Kenneth S. H., Sharr, William W., Dai, Wing Chiu, Fung, James Y. Y., Chan, Kwok Yin, Balsarkar, Dharmesh J., Lo, Chung Mau

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Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome von LAM, CHING-WAN, YEUNG, WAI-LAN, KO, CHUNG-HUNG, POON, PRISCILLA M K, TONG, SUI-FAN, CHAN, KWOK-YIN, LO, IVAN F M, CHAN, LISA Y S, HUI, JOANNIE, WONG, VIRGINIA, PANG, CHI-PUI, LO, Y M DENNIS, FOK, TAI-FAI

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