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Showing results 30 to 48 of 48 < previous

	Title	Author(s)	Issue Date	Views
	NMR-based urinalysis for beta-ketothiolase deficiency Journal:Clinica Chimica Acta	Law, CY Lam, CW Ching, DCK Yau, KC Ho, TW Lai, CK Mak, CM	2015	44
	NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome Journal:Clinica Chimica Acta	Lam, CW Law, CY Leung, KF Lai, CK Chen, SPL Chan, B Chan, KY Yuen, LYP Mak, CM Chan, AYW	2015	57
	Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study Journal:Clinica Chimica Acta	Lee, HCH Lai, CK Yau, KCE Siu, TS Mak, CM Yuen, YP Chan, KY Tam, S Lam, CW Chan, AYW	2012	173
	A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia Journal:Hong Kong Medical Journal	Lee, HHC Lee, RSY Lai, CK Yuen, YP Siu, TS Chan, AYW Lam, CW	2010	138
	Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC Journal:Clinical Chemistry	Lam, CW Poon, PMK Tong, SF Lo, AWI Lai, CK Choi, KL Tiu, SC Chan, YW Shek, CC	2001	98
	Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor Journal:American Journal of Kidney Diseases	Lam, CW Yuen, YP Lai, CK Tong, SF Lau, LK Tong, KL Chan, YW	2001	149
	A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI Journal:Chinese Medical Journal	Lam, CW Chan, AOK Lai, CK Chan, WH Chan, YW Shek, CC Tong, SF	2004	126
	Novel mutations of the AGXT gene causing primary hyperoxaluria type 1 Journal:Journal of Nephrology	Yuen, YP Lai, CK Tong, GMW Wong, PN Wong, FKM Mak, SK Lo, KY Wong, AKM Tong, SF Chan, YW Lam, CW	2004	126
	Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria Journal:Clinica Chimica Acta	Cho, SY Lau, EYT Luk, DCK Law, CY Lai, CK Lam, CW	2021	25
	Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography Journal:Clinica Chimica Acta	Lam, CW Hui, KN Poon, PMK Luk, NM Yuen, YP Tong, SF Lai, CK Chan, YW Lo, KK	2001	176
	Nucleophilic substitution by amide nitrogen in the aromatic rings of [zn − H]˙+ ions; the structures of the [b2 − H − 17]˙+ and [c1 − 17]+ ions Journal:Physical Chemistry Chemical Physics	Mu, X Lau, JKC Lai, CK Siu, KWM Hopkinson, AC Chu, IK	2016	72
	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	175
	Proposed nomenclature for peptide ion fragmentation Journal:International Journal of Mass Spectrometry	Chu, IK Siu, CK Lau, KC Tang, WK MU, X LAI, CK Guo, X Wang, X Li, N Xia, Y Kong, X Oh, HB Ryzhov, V Tureček, F Hopkinson, AC Siu, KWM	2015	51
	Radical-Mediated Peptide Tyrosine Nitration In Vacuo: Experimental Evidence and Theoretical Examination Proceeding/Conference:The 23rd IUPAC Conference on Physical Organic Chemistry (ICPOC-23), 2016	Chu, IK Lai, CK Mu, X Tang, WK Siu, CK	2016	19
	Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II Journal:Diagnostic Molecular Pathology	Lee, HCH Lai, CK Siu, TS Yuen, YP Chan, KY Chan, AYW Tam, S Mak, CM Lam, CW	2010	128
	Roles of radicals and charges in the neutral H3PO4 loss of molecular phosphorylated peptide radical cations Proceeding/Conference:Journal of The American Society for Mass Spectrometry	Quan, Q Kong, RPW Siu, SO Lai, CK Ng, DCM Hao, Q Siu, CK Chu, IK	2011	167
	Simultaneous fluorescence detection of fecal urobilins and porphyrins by reversed-phase high-performance thin-layer chromatography Journal:Clinical Chemistry	Lam, CW Lai, CK Chan, YW	1998	118
	Structures of [GPGG + H – H2O]+ and [GPGG + H – H2O – NH=CH2]+ ions; evidence of rearrangement prior to dissociation Journal:International Journal of Mass Spectrometry	Lau, JKC Lai, CK Lam, KHB Chu, IK Martens, J Berden, G Oomens, J Hopkinson, AC Siu, KWM	2019	24
	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 30 to 48 of 48 < previous