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Showing results 66 to 85 of 97 < previous next >

Title	Author(s)	Issue Date	Views
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale Journal:Orphanet Journal of Rare Diseases	Chiu, ATG Wong, SSN Wong, NWT Wong, WHS Tso, WYW Fung, CW	2022
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
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Annual Symposium of Society for the Study of Inborn Errors of Metabolism, SSIEM 2007	Fung, CW Siu, S Mak, C Poon, GWK Cheung, PT Low, LCK Tam, S Wong, VCN	2007
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Journal of Inherited Metabolic Disease	Fung, CW Siu, S Mak, CM Poon, GWK Wong, KY Cheung, PT Low, LCK Tam, S Wong, VCN	2007	156
A rare cause of hepatosplenomegaly transaldolase deficiency Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses	Fung, CW Siu, S Mak, CM Poon, GWK Wong, KY Cheung, PT Low, LCK Tam, S Wong, VCN	2007
A rare presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystronia (DRD) Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses	Fung, CW Blau, N Siu, S Mak, CM Cheung, PT Tam, S Wong, VCN	2007	108
Review of 17 children with cyclic vomiting syndrome Proceeding/Conference:Chinese Paediatric Forum	Liu, SKY Fung, CW Chiu, SSS Wong, VCN	1996	88
Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong Journal:Science China Life Sciences	Wong, VCN Fung, CW Lee, SL Wong, PT	2015	196
Revisiting ischaemia and reperfusion injury as a possible cause for necrotising enterocolitis Proceeding/Conference:Annual Scientific Meeting of the Australasian Association of Paediatric Surgeons	Chan, KL Chan, KW Hui, C Wo, JYH Tipoe, GL Fung, CW Tam, PKH	2001	119
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet Journal:Brain and Development	Wong, VCN Fung, CW Kwong, KY	2015	75
Spectrum of anticonvulsant hypersensitivity syndrome: Controversy of treatment Journal:Journal of Child Neurology	Lee, WC Leung, JLS Fung, CW Chung, BHY Wong, V	2004	158
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:International Symposium on Epilepsy in Neurometabolic Diseases, ISENMD 2010 Proceedings	Fung, CW Poon, G Kwok, A Cheung, PT Low, L Mak, C Tam, S Siu, S Wong, V	2010	106
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Developmental Medicine and Child Neurology	Fung, CW Smeitenk, J Rodenburg, R Siu, S Ma, O Poon, G Tam, S Wong, V	2012
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Hospital Authority Convention, HAC 2011	Wong, VCN Fung, CW	2011	79
Stiff child syndrome with mutation of DYT1 gene Journal:Neurology	Wong, VCN Lam, CW Fung, CW	2005
A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong Proceeding/Conference:International Symposium on Epilepsy in Neurometabolic Diseases, ISENMD 2010 Proceedings	Fung, CW Poon, G Kwok, A Cheung, PT Low, L Blau, N Siu, S Mak, C Tam, S Wong, V	2010	155
A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong Proceeding/Conference:Hong Kong Medical Journal	Fung, CW Siu, S Poon, G Kwok, A Cheung, PT Low, L Mak, C Tam, S Wong, VCN	2009	174
The epileptology of GNB5 encephalopathy Journal:Epilepsia	Poke, G King, C Muir, A de Valles-Ibariez, G Germano, M Moura de Souza, CF Fung, J Chung, B Fung, CW Mignot, C Ilea, A Keren, B Vermersch, AI Davis, S Stanley, T Moharir, M Kannu, P Shao, Z Malerba, N Merla, G Mefford, HC Scheffer, IE Sadleir, LG	2019	22
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine	Yeung, KS Yu, FNY Fung, CW Wong, S Lee, HCH Fung, STH Fung, GPG Leung, KY Chung, WH Lee, YT Ng, VKS YU, HC Fung, JLF TSANG, MHY Chan, KYK Chan, SHS Kan, ASY Chung, BHY	2020	49
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 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	Yeung, KS Yu, YN Fung, CW Wong, S Lee, HCH Fung, STH Fung, GPG Yu, MHC Fung, JLF Tsang, MHY Chan, YK Chan, HSS Kan, SYA Chung, BHY	2019

Showing results 66 to 85 of 97 < previous next >