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Title	Author(s)	Issue Date	Views
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong Journal:Clin Biochem	Mak, CM Lam, CW Chim, S Siu, TS Ng, KF Tam, S	2013	72
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
Cerebellar degeneration and folate deficiency due to cough mixture abuse Journal:Haematologica	Au, WY Cheng, TS Siu, TS Tam, S	2005	91
Combined effect of isoflurane and esmolol on sympathetic responses to tracheal intubation Journal:Acta Anaesthesiologica Sinica	Yang, JC Siu, TS Ng, KF Gong, Z Tsui, SL Wong, JS	2000	125
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	188
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria Journal:Hong Kong Medical Journal	Yeung, CW Yau, MM Ma, CK Siu, TS Tam, S Lam, CW	2013	54
DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population Journal:Clinica Chimica Acta	Lau, KC Lam, CW Fong, B Siu, TS Tam, S	2009	194
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants Journal:Journal of Human Genetics	Mak, CM Lam, CW Fong, NC Siu, WK Lee, HCH Siu, TS Lai, CK Law, CY Tong, SF Poon, WT Lam, DSY Ng, HL Yuen, YP Tam, S Que, TL Kwong, NS Chan, AYW	2011	102
Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1 Journal:Journal of Biological Chemistry	Li, L Zhang, Q Yang, H Zou, Q Lai, C Jiang, F Zhao, P Luo, Z Yang, J Chen, Q Wang, Y Newsome, PN Frampton, J Maxwell, PH Li, W Chen, S Wang, D Siu, TS Tam, S Tse, HF Qin, B Bao, X Esteban, MA Lai, L	2017
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis Journal:Hong Kong Medical Journal	Lee, HHC Poon, KH Lai, CK Au, KM Siu, TS Lai, JPS Mak, CM Yuen, LYP Lam, CW Chan, AYW	2014	78
Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome Journal:Journal Of Inherited Metabolic Disease	Ho, CCA Fung, CW Siu, TS Ma, OCK Lam, CW Tam, S Wong, VCN	2014	84
Molecular diagnosis for a fatal case of very long-chain Acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening Journal:Diagnostic Molecular Pathology	Siu, WK Mak, CM Siu, SLY Siu, TS Pang, CY Lam, CW Kwong, NS Chan, AYW	2012	81
Neurocognitive evaluation and plasma clozapine concentrations in Chinese patients with treatment-refractory schizophrenia Proceeding/Conference:International Journal of Neuropsychopharmacology	Chen, RYL Siu, TS Tam, S Chen, EYH	2002	143
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	198
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	149
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRTHongKong), in a Chinese teenager with recurrent gouty arthritis Journal:Clinica Chimica Acta	Lam, CW Lee, KP Ng, KF Siu, TS Chan, HM Tam, S	2007
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome Journal:Clinica Chimica Acta	Lam, CW Kong, APS Tsui, TKC Ozaki, R Chan, HM Tong, SF Siu, TS Tam, S Chan, JCN	2008	189
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient Journal:Clinica Chimica Acta	Cho, SY Siu, TS Ma, O Tam, S Lam, CW	2013
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	141
The variability of the hepatitis B virus genome: Statistical analysis and biological implications Journal:Molecular Biology and Evolution	Lauder, IJ Lin, HJ Lau, JYN Siu, TS Lai, CL	1993

Showing results 5 to 24 of 24 < previous