| 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 | 128 |
| 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 | 275 |
| 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 | 154 |
| 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 | 130 |
| 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 | 235 |
| Maternally inherited leigh syndrome: An unusual cause of infantile apnea | Chau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP | 2010 | 201 |
| 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 | 182 |
 | 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 | 251 |
| Chemical pathology case conference - Serum tumour markers | Poon, WT; Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Shek, CC; Tai, MHL; Tam, S; Chan, AYW | 2010 | 83 |
| Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation | Chan, KY; Lam, CW; Lee, LP; Tong, SF; Yuen, YP | 2008 | 63 |
| DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay | Yuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW | 2007 | 56 |
| Chemical pathology case conference - Common endocrine tests | Tai, MHL; Mak, CM; Yuen, YP; Lam, CW; Chiu, RWK; Chan, MHM; Chan, AYW; Shek, ACC; Mak, TWL; Poon, WT; Tam, S | 2007 | 80 |
| Chemical pathology case conference - Laboratory tests for diabetes mellitus | Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Poon, WT; Shek, ACC; Tai, MHL; Tam, S; Chan, AYW | 2007 | 94 |
| Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria | Yuen, YP; Lam, CW; Lai, CK; Tong, SF; Li, PS; Tam, S; Kwan, EYW; Chan, SY; Tsang, WK; Chan, KY; Mak, WL; Cheng, CW; Chan, YW | 2006 | 63 |
| Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome | Lam, CW; Yuen, YP; Cheng, WF; Chan, YW; Tong, SF | 2006 | 60 |
| Chemical pathology case conference - Renal function tests | Yuen, YP; Tam, S; Chan, AKC; Mak, TWL; Lam, CW; Shek, ACC; Chiu, RWK; Chan, MHM; Tai, MHL; Chan, AYW | 2006 | 103 |
| Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia | Lam, CW; Cheng, AWF; Poon, WT; Yuen, YP; Huen, KF | 2006 | 38 |
| Chemical pathology case conference - Assessment of iron status in general practice | Mak, CM; Chiu, RWK; Lam, CW; Chan, AYW; Mak, TWL; Shek, A; Chan, MHM; Tai, MHL; Yuen, YP; Poon, WT; Tam, S | 2006 | 96 |
| Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity | OnKei Chan, A; Lam, CW; Tong, SF; Man Tung, C; Yung, K; Chan, YW; Au, KM; Yuen, YP; Hung, CT; Ng, KP; Shek, CC | 2005 | 60 |
| Novel mutations of the AGXT gene causing primary hyperoxaluria type 1 | Yuen, YP; Lai, CK; Tong, GMW; Wong, PN; Wong, FKM; Mak, SK; Lo, KY; Wong, AKM; Tong, SF; Chan, YW; Lam, CW | 2004 | 61 |
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