Exome sequencing in paediatric patients with movement disorders
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
Published in Orphanet journal of rare diseases (15.01.2021)
Published in Orphanet journal of rare diseases (15.01.2021)
Get full text
Journal Article
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
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
Published in Journal of neuropathology and experimental neurology (01.09.2019)
Published in Journal of neuropathology and experimental neurology (01.09.2019)
Get full text
Journal Article
NMR-based urinalysis for beta-ketothiolase deficiency
Law, Chun-Yiu, Lam, Ching-Wan, Ching, Chor-kwan, Yau, Kin-Cheong Eric, Ho, Tsz-wai, Lai, Chi-kong, Mak, Chloe Miu
Published in Clinica chimica acta (01.01.2015)
Published in Clinica chimica acta (01.01.2015)
Get full text
Journal Article
Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder
Lee, Han-Chih, Lau, Nike, Yeung, Chun-Wing, Ng, Sui-Fun, Yau, Kin-Cheong, Mak, Chloe
Published in Chinese medical journal (20.09.2018)
Published in Chinese medical journal (20.09.2018)
Get full text
Journal Article
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
Ling, Tsz-Ki, Wong, Ka-Chung, Chan, Candace Yim, Lau, Nike Kwai-Cheung, Law, Chun-yiu, Lee, Han-Chih Hencher, Lai, Chi-Kong, Chong, Yeow-Kuan, Yau, Kin-Cheong Eric, Cheung, Ka-Ming, Ko, Chun-Hung, Fung, Cheuk-wing, Lee, Lai-Ka, Wong, Sheila Suet-Na, Mak, Chloe M, Chan, Albert Yan-Wo, Tam, Sidney, Lam, Ching-wan
Published in Clinica chimica acta (01.10.2021)
Published in Clinica chimica acta (01.10.2021)
Get full text
Journal Article
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
Law, Chun-Yiu, Chang, Sharon Tzu-Lun, Cho, Sun Young, Yau, Eric Kin-Cheong, Ng, Grace Sui-Fun, Fong, Nai-Chung, Lam, Ching-Wan
Published in Clinica chimica acta (07.12.2015)
Published in Clinica chimica acta (07.12.2015)
Get full text
Journal Article
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region
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
Published in Brain & development (Tokyo. 1979) (01.11.2022)
Published in Brain & development (Tokyo. 1979) (01.11.2022)
Get full text
Journal Article
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype
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
Published in Clinical neurology and neurosurgery (01.12.2020)
Published in Clinical neurology and neurosurgery (01.12.2020)
Get full text
Journal Article
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong
Belaramani, Kiran Moti, Fung, Cheuk Wing, Kwok, Anne Mei Kwun, Lee, Shing Yan Robert, Yau, Eric Kin Cheong, Luk, Ho Ming, Mak, Chloe Miu, Yeung, Matthew Chun Wing, Ngan, Olivia Miu Yung
Published in International journal of neonatal screening (11.08.2023)
Published in International journal of neonatal screening (11.08.2023)
Get full text
Journal Article
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Belaramani, Kiran Moti, Chan, Toby Chun Hei, Hau, Edgar Wai Lok, Yeung, Matthew Chun Wing, Kwok, Anne Mei Kwun, Lo, Ivan Fai Man, Law, Terry Hiu Fung, Wu, Helen, Wong, Sheila Suet Na, Lam, Shirley Wai, Ha, Gladys Ha Yin, Lau, Toby Pui Yee, Wong, Tsz Ki, Or, Venus Wai Ching, Wong, Rosanna Ming Sum, Ming, Wong Lap, Chow, Jasmine Chi Kwan, Yau, Eric Kin Cheong, Fu, Antony, Chong, Josephine Shuk Ching, Yau, Ho Chung, Poon, Grace Wing Kit, Ng, Kwok Leung, Chan, Kwong Tat, Lam, Yuen Yu, Hui, Joannie, Mak, Chloe Miu, Fung, Cheuk Wing
Published in International journal of neonatal screening (01.03.2024)
Published in International journal of neonatal screening (01.03.2024)
Get full text
Journal Article
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
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
Published in Clinica chimica acta (18.01.2012)
Published in Clinica chimica acta (18.01.2012)
Get full text
Journal Article
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
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
Published in Clinical and translational medicine (16.05.2016)
Published in Clinical and translational medicine (16.05.2016)
Get full text
Journal Article
X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family
Hung, Ling-Yin, Subramaniam, Shreenidhi Ranganatha, Tong, Tsz-Yan Tammy, Chan, Wing-Ki, Yau, Eric Kin-Cheong, Ching, Chor-Kwan
Published in Clinica chimica acta (01.10.2021)
Published in Clinica chimica acta (01.10.2021)
Get full text
Journal Article
Clinical characteristics of unvaccinated or incompletely vaccinated children with neurological manifestations due to SARS‐CoV‐2 Omicron infection
Tso, Winnie Wan‐Yee, Kwan, Mike Yat‐Wah, Kwok, Janette Siu‐Yin, Tsang, Jessica Oi‐Ling, Yip, Cyril Chik‐Yan, Leung, Lok‐Kan, Li, Cuixin, Wang, Yuliang, Chow, Mathew Siu‐Chun, Tsang, Anita Man‐Ching, Chim, Stella, Chow, Chin‐Ying, Ho, Alvin Chi‐Chung, Chan, Sophelia Hoi‐Shan, Tai, Shuk‐Mui, Lee, Wing‐Cheong, Chan, Victor Chi‐Man, Yau, Eric Kin‐Cheong, Sun, Jacquelyne Ka‐Li, Chow, Hei‐Man, Lau, Yu‐Lung, Ip, Patrick, Chan, Jasper Fuk‐Woo
Published in Journal of medical virology (01.07.2023)
Published in Journal of medical virology (01.07.2023)
Get full text
Journal Article
Kawasaki disease mimicking retropharyngeal abscess in an infant
Koh, Carline, Yau, Eric Kin Cheong, Chung, Fong Nai, Wo, Hui Yim
Published in Journal of pediatric infectious diseases (01.01.2010)
Published in Journal of pediatric infectious diseases (01.01.2010)
Get full text
Journal Article
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing Kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie
Published in Case reports in genetics (01.01.2022)
Published in Case reports in genetics (01.01.2022)
Get full text
Report
Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J.T. Rodenburg, Lek, Monkol, Huang, Shushu, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Fung, Sharon, Liu, Kam-Tim, Che-Kwan, Ma, Wong, Sheila, Yau, Eric Kin-Cheong, Shuk-Mui Tai, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Li-Yan, Tsung, Smeitink, Jan, Brian Hon-Yin Chung, Cheuk-Wing Fung
Published in Orphanet Journal of Rare Diseases (06.11.2020)
Published in Orphanet Journal of Rare Diseases (06.11.2020)
Get full text
Web Resource