| Title | Author(s) | Year | View Count |  | Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study | Lee, HCH; Lai, CK; Yau, KCE; Siu, TS; Mak, CM; Yuen, YP; Chan, KY; Tam, S; Lam, CW; Chan, AYW | 2012 | 140 |
| 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 | Siu, WK; Mak, CM; Siu, SLY; Siu, TS; Pang, CY; Lam, CW; Kwong, NS; Chan, AYW | 2012 | 53 |
 | Arginase deficiency with new phenotype and a novel mutation: Contemporary Summary | Tsang, JPK; Poon, WL; Luk, HM; Fung, CW; Ching, CK; Mak, CM; Lam, CW; Siu, TS; Tam, S; Wong, VCN | 2012 | 1 |
| Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants | 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 | 169 |
| Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kong | Lee, HCH; Mak, CM; Lam, CW; Yuen, YP; Chen, AOK; Shek, CC; Siu, TS; Lai, CK; Ching, CK; Siu, WK; Chen, SPL; Law, CY; Tai, MHL; Tam, S; Chan, AYW | 2011 | 137 |
| Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II | Lee, HCH; Lai, CK; Siu, TS; Yuen, YP; Chan, KY; Chan, AYW; Tam, S; Mak, CM; Lam, CW | 2010 | 189 |
 | A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia | Lee, HHC; Lee, RSY; Lai, CK; Yuen, YP; Siu, TS; Chan, AYW; Lam, CW | 2010 | 261 |
| Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese | 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 | 242 |
| DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population | Lau, KC; Lam, CW; Fong, B; Siu, TS; Tam, S | 2009 | 46 |
| Analysis of melamine cyanurate in urine using matrix-assisted laser desorption/ionization mass spectrometry | Tang, HW; Ng, KM; Chui, SSY; Che, CM; Lam, CW; Yuen, KY; Siu, TS; Lan, LCL; Che, X | 2009 | 116 |
| A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome | Lam, CW; Kong, APS; Tsui, TKC; Ozaki, R; Chan, HM; Tong, SF; Siu, TS; Tam, S; Chan, JCN | 2008 | 81 |
| Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. | 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 | 131 |
| A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRTHongKong), in a Chinese teenager with recurrent gouty arthritis | Lam, CW; Lee, KP; Ng, KF; Siu, TS; Chan, HM; Tam, S | 2007 | 59 |
| Cerebellar degeneration and folate deficiency due to cough misture abuse | Au, WY; Cheng, TS; Siu, TS; Yuen, KY | 2005 | 105 |
| Neurocognitive evaluation and plasma clozapine concentrations in Chinese patients with treatment-refractory schizophrenia | Chen, RYL; Siu, TS; Tam, S; Chen, EYH | 2002 | 81 |
| Combined effect of isoflurane and esmolol on sympathetic responses to tracheal intubation | Yang, JC; Siu, TS; Ng, KF; Gong, Z; Tsui, SL; Wong, JS | 2000 | 145 |
| The variability of the hepatitis B virus genome: Statistical analysis and biological implications | Lauder, IJ; Lin, HJ; Lau, JYN; Siu, TS; Lai, CL | 1993 | 49 |
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