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Showing results 1 to 15 of 15

	Title	Author(s)	Issue Date	Views
	Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness Journal:Neurology	Kong, CK Ko, CH Tong, SF Lam, CW	2001	165
	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	261
	Case Report Effective Treatment of Refractory Chorea in GNAO1 Variants by Folinic Acid Journal:HK J Paediatr (New Series)	CHENG, WT Lam, CW KO, CH	2022
	C−H Activation by an Iron‐Nitrido Bis‐Pocket Porphyrin Species Journal:Angewandte Chemie (International Edition)	Wang, H Wu, L Zheng, B Du, L To, WP Ko, CH Phillips, DL Che, CM	2021	30
	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	181
	Guillain-Barré syndrome in children - High occurrence of Miller Fisher syndrome in East Asian region Journal:Brain Dev	Chiu, TA Chan, RWK Yau, MLY Yuen, ACL Lam, AKF Lau, SWY Lau, AMC Fung, THS Ma, KH Lau, CWL Yau, MM Ko, CH Tsui, KW Ma, CK Tai, SM Yau, KCE Fung, E Wu, SP Kwong, L Chan, HSS	2022
	Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome Journal:Pediatric Neurology	Khong, PL Lam, CW Ooi, CGC Ko, CH Wong, VCN	2002	130
	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	189
	Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity (Journal of Human Genetics (2008) 53 (55-63) DOI: 10.1007/s10038-007-0218-2) Journal:Journal of Human Genetics	Mak, CM Lam, CW Tam, S Lai, CL Chan, LY Fan, ST Lau, YL Lai, ST 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	203
	De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring Journal:Journal of Paediatrics and Child Health	Ko, Ch Lam, CW Tse, PWT Kong, CK Chan, AKH Wong, LJC	2001	179
	Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China Journal:Chinese Medical Journal	Mak, CM Ko, CH Lam, CW Lau, WL Siu, WK Chen, SPL Law, CY Lai, CK Yu, CM Chan, AYW	2011	206
	Randomised control trial of tongue acupuncture versus sham acupuncture in improving functional outcome in cerebral palsy Journal:Journal of Neurology, Neurosurgery and Psychiatry	Sun, JG Ko, CH Wong, V Sun, XR	2004	145
	Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. Journal:Journal of medical genetics	Lam, CW Yeung, WL Ko, CH Poon, PM Tong, SF Chan, KY Lo, IF Chan, LY Hui, J Wong, V Pang, CP Lo, YM Fok, TF	2000	169
	Two novel CLN2 gene mutations in an Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis [2] Journal:American Journal of Medical Genetics	Lam, CW Poon, PMK Tong, SF Ko, CH	2001	199
	Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area Journal:Clinica Chimica Acta	Ling, TK Wong, KC Chan, CY Lau, NKC Law, CY Lee, HCH Lai, CK Chong, YK Yau, KCE Cheung, KM Ko, CH Fung, CW Lee, LK Wong, SSN Mak, CM Chan, AYW Tam, S Lam, CW	2021	23

Showing results 1 to 15 of 15