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Showing results 1 to 12 of 12

	Title	Author(s)	Issue Date	Views
	A fatal case of COQ7-associated primary coenzyme Q10 deficiency Journal:JIMD Reports	Kwong, AKY Chiu, ATG TSANG, MHY Lun, KS Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019	97
	ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV Journal:Brain & Development	Kwong, AKY Chu, VLY RODENBURG, RJT SMEITINK, J Fung, CW	2019	50
	Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Tsang, MHY Kwong, AKY Fung, JLF Yu, MHC Yeung, KS Mak, CCY Rodenburg, R Smeitink, J Luk, HM Lo, FMI Chung, BHY Fung, CW	2019
	COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	YU, HC TSANG, HY Pei, LCS Chan, VCM Rodenburg, RJT Smeitink, J Lee, NNC Fung, CW Chung, BHY	2018	58
	Exome sequencing in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases	Kwong, AKY TSANG, MHY Fung, JLF Mak, CCY Chan, KLS Rodenburg, RJT Lek, M Huang, S Pajusalu, S Yau, MM Tsoi, C Fung, S Liu, KT Ma, CK Wong, S Yau, EKC Tai, SM Fung, ELW Wu, NSP Tsung, LY Smeitink, J Chung, BHY Fung, CW	2021	44
	High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Kwong, KY Tsang, MHY Fung, JLF Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019
	High FGF-21 level in patients with Dravet Syndrome – Possible relationship with the disease outcomes Journal:Epilepsia Open	Kwong, KY Wong, CNV Wong, SSN Chu, LYV Koene, S Smeitink, J Fung, CW	2021
	Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency Journal:JIMD Report	Kwong, KY Wong, SSN Rodenburg, RJT Smeitink, J Chan, GCF Fung, CW	2021	2
	Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape Journal:Orphanet Journal of Rare Diseases	Wong, TS Belaramani, KM Chan, CK Chan, WK Chan, WLL Chang, SK Cheung, SN Cheung, KY Cheung, YF Chong, SCJ Chow, CKJ Chung, HYB Fan, SYF Fok, WMJ Fong, KW Fung, THS Hui, KF Hui, TH Hui, JN Ko, CH Kwan, MC Kwok, MKA Kwok, SSJ Lai, MS Lam, YO Lam, CW Lau, MC Law, CYE Lee, WC Lee, HCH Lee, CN Leung, KH Leung, KY Li, SH Ling, TKJ Liu, KTT Lo, FM Lui, HT Luk, CO Luk, HM Ma, CK Ma, KR Ma, KH Mew, YN Mo, AL Ng, SF Poon, WKG Rodenburg, R Sheng, B Smeitink, J Szeto, CLC Tai, SM Tse, CTA Tsung, LL Wong, HMJ Wong, WYW Wong, KK Wong, SNS Wong, CNV Wong, WSS Wong, CKF Wu, SP Wu, HFJ Yau, MM Yau, KCE Yeung, WL Yeung, HMJ Yip, KKE Young, PHT Yuan, G Yuen, YPL Yuen, CL Fung, CW	2-Mar-2023
	Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019	Kwong, KY RODENBURG, RJT SMEITINK, J Fung, CW	2019	2
	NOA1 is an essential GTPase required for mitochondrial protein synthesis Journal:Molecular Biology of the Cell	Kolanczyk, M Pech, M Zemojtel, T Yamamoto, H Mikula, I Calvaruso, MA Van Den Brand, M Richter, R Fischer, B Ritz, A Kossler, N Thurisch, B Spoerle, R Smeitink, J Kornak, U Chan, D Vingron, M Martasek, P Lightowlers, RN Nijtmans, L Schuelke, M Nierhaus, KH Mundlos, S	2011	215
	Radboud Centre for Mitochondrial Medicine Pediatric MRI score Journal:Mitochondrion	Wong, SSN Goraj, B Fung, CW Vister, J de Boer, L Koene, S Smeitink, J	2017	57

Showing results 1 to 12 of 12