Zobrazeno 1 - 10
of 57
pro vyhledávání: '"WL Yeung"'
Publikováno v:
Pediatric Neurology. 109:91-93
Publikováno v:
Clinica Chimica Acta. 469:63-68
Background More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identificat
Autor:
Ching-Wan Lam, Angel Ok Chan, WL Yeung, YF Cheung, Yuet-Ping Yuen, Eva Lai-Wah Fung, CY Law, HF Chan, Joannie Hui, Iris Ok Yung
Publikováno v:
Hong Kong Medical Journal. :619-622
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 496
Background Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of mitochondrial DNA without qualitative defects. Diagnosis of these diseases poses
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 24(1)
Acute ischaemic stroke due to large vessel occlusion leads to grave neurological morbidity and mortality. Conventional intravenous thrombolysis is ineffective in achieving timely reperfusion in this group of patients. The publication of five positive
Autor:
Y. L. Chan, Wing-kwan Alex Leung, WL Yeung, Winnie C.W. Chu, Albert M. Li, Chi-hang Assunta Ho, Kam Lun Hon
Publikováno v:
Journal of Child Neurology. 21:737-741
We report the neurologic and radiologic manifestations of three adolescent girls with acute carbon monoxide poisoning. The girls were found collapsed and unconscious in a bathroom where liquid petroleum gas was being used as heating fuel. As hyperbar
Autor:
Joannie Hui, Chi-Kong Lai, Pak Cheung Ng, Wing-Tat Poon, WL Yeung, Chung Mo Chow, Kwan Chee Allen Chan, Hugh Simon Lam, Albert Yan-Wo Chan
Publikováno v:
Pediatrics. 118:820-824
Numerous vitamin supplements are available over-the-counter to the general public. Some such supplements are available as candy-like chewable preparations to encourage consumption by children. We report 3 cases of overdose of such preparations. Each
Autor:
Chun-Hung Ko, Ching-Wan Lam, Joannie Hui, Louis C K Low, K Y Chan, Chloe Miu Mak, Eric Kin-Cheong Yau, Cheuk-Wing Fung, Simon T.S. Siu, WL Yeung, Virginia Wong
Publikováno v:
Journal of child neurology. 26(2)
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset afte
Autor:
Hon Cheung Lee, Chun-Hung Ko, Yan-Wo Chan, Chloe Miu Mak, Virginia Wong, Yuet-Ping Yuen, Sidney Tam, S.P. Chen, Sui-Fan Tong, WL Yeung, Cheuk-Wing Fung, Ching-Wan Lam, Tak-Shing Siu, B Chan, Joannie Hui, Louis C K Low, KY Chan, E. Yau, Wai-Kwan Siu
Publikováno v:
Molecular genetics and metabolism. 99(4)
Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated
Autor:
Ivan F M Lo, Suet Na Wong, Mary Ngan, Ling Kwong, Virginia Wong, Eva Lai-Wah Fung, WL Yeung, Shuk Mui Tai, Wai Wai Cheng, CK Ma, Shun Ping Wu, Sophelia H. S. Chan, Sharon Wan-wah Cherk, Wing Cheong Lee, Grace S. F. Ng
Publikováno v:
Child Neurology Open. 2:2329048X1558534
The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and