Search Results - "Yau, Eric"

Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia by Tsagkaris, Stavros, Yau, Eric K C, McClelland, Verity, Papandreou, Apostolos, Siddiqui, Ata, Lumsden, Daniel E, Kaminska, Margaret, Guedj, Eric, Hammers, Alexander, Lin, Jean-Pierre

“…Abstract There is a lack of imaging markers revealing the functional characteristics of different brain regions in paediatric dystonia. In this observational…”
Get full text

Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong by Ho, Alvin Chi-chung, Chan, Sophelia Hoi-shan, Chan, Eric, Wong, Sheila Suet-na, Fung, Sharon Tsui-hang, Cherk, Sharon Wan-wah, Fung, Eva Lai-wah, Ma, Kam-hung, Tsui, Kwing-wan, Yau, Eric Kin-cheong, Wong, Virginia Chun-nei

“…The study aims to analyze the incidence, clinical features, investigation findings and treatment outcomes of anti-N-methyl-d-aspartate receptor encephalitis in…”
Get full text

All trans-retinoic acid modulates hyperoxia-induced suppression of NF-kB-dependent Wnt signaling in alveolar A549 epithelial cells by Tsotakos, Nikolaos, Ahmed, Imtiaz, Umstead, Todd M, Imamura, Yuka, Yau, Eric, Silveyra, Patricia, Chroneos, Zissis C

“…Introduction Despite recent advances in perinatal medicine, bronchopulmonary dysplasia (BPD) remains the most common complication of preterm birth…”
Get full text

Exome sequencing in paediatric patients with movement disorders by Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J T, Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing

“…Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders…”
Get full text

Surfactant protein A alters endosomal trafficking of influenza A virus in macrophages by Yau, Eric, Yang, Linlin, Chen, Yan, Umstead, Todd M, Atkins, Hannah, Katz, Zoe E, Yewdell, Jonathan W, Gandhi, Chintan K, Halstead, E Scott, Chroneos, Zissis C

“…Influenza A virus infection (IAV) often leads to acute lung injury that impairs breathing and can lead to death, with disproportionate mortality in children…”
Get full text

Nanoscopic Morphologies in Block Copolymer Nanorods as Templates for Atomic-Layer Deposition of Semiconductors by Wang, Yong, Qin, Yong, Berger, Andreas, Yau, Eric, He, Changcheng, Zhang, Lianbing, Gösele, Ulrich, Knez, Mato, Steinhart, Martin

“…Block‐copolymer nanorods containing mesopore structures derived from confinement‐induced nanoscopic morphologies were used as templates for atomic‐layer…”
Get full text

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy by Law, Chun-Yiu, Chang, Sharon Tzu-Lun, Cho, Sun Young, Yau, Eric Kin-Cheong, Ng, Grace Sui-Fun, Fong, Nai-Chung, Lam, Ching-Wan

“…The cause of infantile-onset epilepsy is complex and is not easily recognized clinically, particularly in paediatric patients who present with non-specific…”
Get full text

Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region by 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, Chan, Sophelia Hoi Shan

“…Guillain-Barré syndrome (GBS) is a rare acquired immune-mediated polyneuropathy. Updated population-based data concerning paediatric GBS is needed. Paediatric…”
Get full text

Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese by Lee, Han-Chih Hencher, Wong, Shun, Leung, Frank Ying-Kit, Ho, Luen-Cheung, Chan, Siu-Ki Timothy, Fung, Tsui-Hang Sharon, Kwan, Kwok-Fan, Yau, Kin-Cheong Eric, Li, Ka-Wah, Yau, Wai-Nang, Leung, Hoi-Ki Cynthia, Chen, Sammy Pak-Lam, Mak, Chloe Miu

“…KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in…”
Get full text

NMR-based urinalysis for beta-ketothiolase deficiency by Law, Chun-Yiu, Lam, Ching-Wan, Ching, Chor-kwan, Yau, Kin-Cheong Eric, Ho, Tsz-wai, Lai, Chi-kong, Mak, Chloe Miu

“…Beta-ketothiolase deficiency is a rare inborn errors of metabolism (IEM) affecting the catabolism of isoleucine, characterized by severe ketoacidosis in…”
Get full text

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong by Mak, C M, Law, E Cy, Lee, H Hc, Siu, W K, Chow, K M, Au Yeung, S Kc, Ngan, H Ys, Tse, N Kc, Kwong, N S, Chan, G Cf, Lee, K W, Chan, W P, Wong, S F, Tang, M Hy, Kan, A Sy, Hui, A Pw, So, P L, Shek, C C, Lee, R Sy, Wong, K Y, Yau, E Kc, Poon, K H, Siu, S, Poon, G Wk, Kwok, A Mk, Ng, J Wy, Yim, V Cs, Ma, G Gy, Chu, C H, Tong, T Y, Chong, Y K, Chen, S Pl, Ching, C K, Chan, A Ok, Tam, S, Lau, R Lk, Ng, W F, Lee, K C, Chan, A Yw, Lam, C W

“…Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a…”
Get full text

Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder by Lee, Han-Chih, Lau, Nike, Yeung, Chun-Wing, Ng, Sui-Fun, Yau, Kin-Cheong, Mak, Chloe

“…Pathogenic and likely pathogenic variants were subsequently confirmed by Sanger sequencing in the proband and in the mother. Since the parents were divorced,…”
Get full text

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant by Ching, C K, Mak, Chloe M, Au, K M, Chan, K Y, Yuen, Y P, Yau, Eric K C, Ma, Louis C K, Chow, H L, Chan, Albert Y W

“…We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of…”
Get full text

"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture by Ngan, Olivia Miu Yung, Fung, Cheuk Wing, Kwok, Mei Kwun, Yau, Eric Kin Cheong, Lee, Shing Yan Robert, Luk, Ho-Ming, Belaramani, Kiran Moti

“…Newborn screening programmes offer an opportunity to obtain dried blood spots (DBS) cards that contain a wealth of biological information that can be stored…”
Get full text

Utilization of Antiepileptic Drugs in Hong Kong Children by Kwong, Karen L., MD, Tsui, Kwing W., MD, Wu, Shun P., MD, Yung, Ada, MD, Yau, Eric, MD, Eva, Fung, MD, Ma, Che K., MD, Cherk, Sharon, MD, Liu, Kam T., MD, Cheng, Wai W., MD, Yau, Man M., MD

“…Abstract This study investigated the prescribing patterns of antiepileptic drugs, especially the uptake of newer drugs, among children and adolescents in Hong…”
Get full text

Multilayered Core/Shell Nanowires Displaying Two Distinct Magnetic Switching Events by Chong, Yuen Tung, Görlitz, Detlef, Martens, Stephan, Yau, Man Yan Eric, Allende, Sebastian, Bachmann, Julien, Nielsch, Kornelius

“…Atomic layer deposition (ALD) and electrodeposition are combined with a porous template to create ordered arrays of nanowires in which a nickel core and an…”
Get full text

A comparative evaluation of conventional and pretargeted radioimmunotherapy of CD20-expressing lymphoma xenografts by Press, Oliver W., Corcoran, Melissa, Subbiah, Krishnan, Hamlin, Don K., Wilbur, D. Scott, Johnson, Timothy, Theodore, Louis, Yau, Eric, Mallett, Robert, Meyer, Damon L., Axworthy, Don

“…Radioimmunotherapy with anti-CD20 monoclonal antibodies is a promising new treatment approach for patients with relapsed B-cell lymphomas. However, the…”
Get full text

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong by 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

“…Background Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the…”
Get full text

Integration of aerial oblique imagery and terrestrial imagery for optimized 3D modeling in urban areas by Wu, Bo, Xie, Linfu, Hu, Han, Zhu, Qing, Yau, Eric

“…Photorealistic three-dimensional (3D) models are fundamental to the spatial data infrastructure of a digital city, and have numerous potential applications in…”
Get full text

Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype by 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

“…•Thiamine pyrophosphokinase deficiency due to TPK1 mutations typically presents as a childhood disorder with episodic encephalopathy with psychomotor…”
Get full text