| 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 | 126 |
| Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation | Mak, CM; Lee, CY; Lam, CW; Siu, WK; Hung, VCN; Chan, AYW | 2012 | 33 |
 | Pollutant dispersion in a natural ventilated dental clinic | Zhang, W; Mak, CM; Wong, HM | 2012 | 71 |
| Numerical study of pollutant dilution in a natural ventilated dental clinic | Mak, CM; Zhang, W; Wong, HM | 2012 | 42 |
| Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients | Mak, CM; Siu, WK; Law, CY; Wong, CK; Lee, HK; Yeung, S; Sham, CO; Tse, K; Lee, HHC; Chen, SPL; Ching, CK; Au, CK; Poon, WT; Lam, CW; Kwong, NS; Chan, AYW | 2012 | 51 |
| 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 | 46 |
| Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors | Siu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW | 2011 | 95 |
| Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency | Yeung, WL; Wong, VCN; Chan, KY; Hui, J; Fung, CW; Yau, E; Ko, CH; Lam, CW; Mak, CM; Siu, S; Low, L | 2011 | 206 |
| Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment | Lau, KC; Lam, CW; Law, CY; Lai, ST; Tsang, TY; Siu, CWK; To, WK; Leung, KF; Mak, CM; Poon, WT; Chan, PKS; Chan, YW | 2011 | 161 |
| Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis | Lam, CW; Lau, KC; Mak, CM; Tsang, MW; Chan, YW | 2011 | 180 |
| Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients | Mak, CM; Chan, KY; Yau, EKC; Chen, SPL; Siu, WK; Law, CY; Lam, CW; Chan, AYW | 2011 | 76 |
| Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia | Chen, SPL; Poon, WT; Mak, CM; Lam, CW; Kwong, YL; Chan, AYW; Tam, S | 2011 | 371 |
| Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome | Mak, CM; Sheng, B; Lee, HHC; Lau, KK; Chan, WT; Lam, CW; Chan, YW | 2011 | 130 |
| Molecular basis of von Hippel-Lindau syndrome in Chinese patients | Siu, WK; Ma, RCW; Lam, CW; Mak, CM; Yuen, YP; Lo, FMI; Chan, KW; Lam, SF; Ling, SC; Tong, SF; So, WY; Chow, CC; Tang, MHY; Tam, WH; Chan, AYW | 2011 | 270 |
| Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China | Mak, CM; Ko, CH; Lam, CW; Lau, WL; Siu, WK; Chen, SPL; Law, CY; Lai, CK; Yu, CM; Chan, AYW | 2011 | 90 |
| 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 | 151 |
| 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 | 129 |
| A four-part setting on examining the anxiety-provoking capacity of the sound of dental equipment | Wong, HM; Mak, CM; Xu, YF | 2011 | 77 |
| Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessment | Siu, WK; Mak, CM; Lee, HCH; Tam, S; Lee, J; Chan, TM; Fung, KSS; Tong, KLM; Chan, YWA | 2011 | 99 |
| 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 | 232 |
|
