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Showing results 1 to 13 of 13

	Title	Author(s)	Issue Date
	Arginase deficiency with new phenotype and a novel mutation: Contemporary Summary Journal:Pediatric Neurology	Tsang, JPK Poon, WL Luk, HM Fung, CW Ching, CK Mak, CM Lam, CW Siu, TS Tam, S Wong, VCN	2012
	Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese Journal:Molecular Genetics and Metabolism	Mak, CM Lam, CW Siu, TS Chan, KY Siu, WK Yeung, WL Hui, J Wong, VCN Low, LCK Ko, CH Fung, CW Chen, SP Yuen, YP Lee, HC Yau, E Chan, B Tong, SF Tam, S Chan, YW	2010
	Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. Journal:Journal of inherited metabolic disease	Mak, CM Siu, TS Lam, CW Chan, GC Poon, GW Wong, KY Low, LC Tang, NL Li, SK Lau, KY Kwong, NS Tam, S	2007
	Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong Journal:Journal of Medical Screening	Lee, HHC Mak, CM Poon, WKG Wong, KY Lam, CW	2014
	Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency Journal:Journal of Child Neurology	Yeung, WL Wong, VCN Chan, KY Hui, J Fung, CW Yau, E Ko, CH Lam, CW Mak, CM Siu, S Low, L	2011
	Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity Journal:Journal of Human Genetics	Mak, CM Lam, CW Tam, S Lai, CL Chan, LY Fan, ST Lau, YL Lai, JY Yuen, P Hui, J Fu, CC Wong, KS Mak, WL Tze, K Tong, SF Lau, A Leung, N Hui, A Cheung, KM Ko, CH Chan, YK Ma, O Chau, TN Chiu, A Chan, YW	2008
	A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease	Fung, CW Blau, N Siu, S Mak, CM Cheung, PT Tam, S Wong, VCN	2007
	Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke Journal:Clinica Chimica Acta	Lam, CW Law, CY Siu, CWK Fung, CW Yau, MM Huen, KF Lee, HHC Mak, CM	2015
	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
	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
	Reversible Myocardial Damage in a Premature Infant with Carnitine-Acylcarnitine Translocase Deficiency Proceeding/Conference:Hong Kong Journal of Paediatrics	Poon, GWK Mak, CM Wong, RMS Wong, KY Yung, TC Tam, S Siu, STS Lee, JSK Low, LCK	2004
	Serial lipoprotein electrophoresis reveals the lipid changes in L-asparaginase-induced chylomicronaemia syndrome Journal:British Journal of Biomedical Science	Mak, CM Pang, RWC Chan, GCF Wong, WK Tam, S	2005

Showing results 1 to 13 of 13