Results 1 to 13 of 13
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TypeTitleAuthor(s)YearViews
Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong KongLee, 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, AYW2011203
 
Isolated 17,20-lyase deficiency in a Hong Kong Chinese patient with a novel nonsense mutation in the CYB5A geneChan, AOK; Yeung, TWY; Li, RHW; Ng, EHY; Ho, PC; Lai, PS; Shek, CC201019
 
Chemical pathology case conference - Serum tumour markersPoon, WT; Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Shek, CC; Tai, MHL; Tam, S; Chan, AYW2010129
 
Normal cord blood thyroid-stimulating hormone in a child with resistance to thyroid hormoneChan, AOK; Lam, CW; Lo, IFM; Lam, STS; Shek, CC; Tiu, SC; Tong, SF200598
 
DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormoneLam, CW; Chan, AOK; Tong, SF; Shek, CC; Sau, CT2005126
 
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activityOnKei Chan, A; Lam, CW; Tong, SF; Man Tung, C; Yung, K; Chan, YW; Au, KM; Yuen, YP; Hung, CT; Ng, KP; Shek, CC200585
 
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VILam, CW; Chan, AOK; Lai, CK; Chan, WH; Chan, YW; Shek, CC; Tong, SF200469
 
Infants born to mothers with severe acute respiratory syndrome.Shek, CC; Ng, PC; Fung, GP; Cheng, FW; Chan, PK; Peiris, MJ; Lee, KH; Wong, SF; Cheung, HM; Li, AM; Hon, EK; Yeung, CK; Chow, CB; Tam, JS; Chiu, MC; Fok, TF2003118
 
Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese familyLee, CY; Lam, CW; Shek, CC200369
 
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluriaAu, KM; Lai, CK; Yuen, YP; Shek, CC; Lam, CW; Chan, AYW2003117
 
Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLCLam, CW; Poon, PMK; Tong, SF; Lo, AWI; Lai, CK; Choi, KL; Tiu, SC; Chan, YW; Shek, CC200165
 
Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1aLam, CW; But, WM; Shek, CC; Tong, SF; Chan, YS; Choy, KW; Tse, WY; Pang, CP; Hjelm, NM1998112
 
Biochemical investigation of young hospitalized Chinese children: Results over a 7-year periodPang, CP; Law, LK; Mak, YT; Shek, CC; Cheung, KL; Mak, TWL; Lam, CW; Chan, AYW; Fok, TF1997116
 
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