Results 1 to 20 of 54
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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 KongMak, CM; Lam, CW; Chim, S; Siu, TS; Ng, KF; Tam, S201329
Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithmLam, CW; Mak, CM201324
Numerical study of pollutant dilution in a natural ventilated dental clinicMak, CM; Zhang, W; Wong, HM201252
Arginase deficiency with new phenotype and a novel mutation: Contemporary SummaryTsang, JPK; Poon, WL; Luk, HM; Fung, CW; Ching, CK; Mak, CM; Lam, CW; Siu, TS; Tam, S; Wong, VCN201242
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot studyLee, HCH; Lai, CK; Yau, KCE; Siu, TS; Mak, CM; Yuen, YP; Chan, KY; Tam, S; Lam, CW; Chan, AYW2012166
Hypoglycaemia due to autoimmune insulin syndrome in a 78-year-old Chinese manYeung, CW; Mak, CM; Lam, KSL; Tam, S201213
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 screeningSiu, WK; Mak, CM; Siu, SLY; Siu, TS; Pang, CY; Lam, CW; Kwong, NS; Chan, AYW2012115
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patientsMak, 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, AYW201297
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutationMak, CM; Lee, CY; Lam, CW; Siu, WK; Hung, VCN; Chan, AYW201260
Pollutant dispersion in a natural ventilated dental clinicZhang, W; Mak, CM; Wong, HM2012132
Parental attitudes on expanded newborn screening in Hong KongMak, CM; Lam, CW; Law, CY; Siu, CWK; Kwong, LL; Chan, KL; Chan, WT; Chow, KM; Lee, KW; Chan, WP; Chan, AYW201250
Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesisLam, CW; Lau, KC; Mak, CM; Tsang, MW; Chan, YW2011191
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiencyYeung, WL; Wong, VCN; Chan, KY; Hui, J; Fung, CW; Yau, E; Ko, CH; Lam, CW; Mak, CM; Siu, S; Low, L2011219
Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessmentSiu, WK; Mak, CM; Lee, HCH; Tam, S; Lee, J; Chan, TM; Fung, KSS; Tong, KLM; Chan, YWA2011208
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
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variantsMak, 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, AYW2011203
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 treatmentLau, KC; Lam, CW; Law, CY; Lai, ST; Tsang, TY; Siu, CWK; To, WK; Leung, KF; Mak, CM; Poon, WT; Chan, PKS; Chan, YW2011205
Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemiaChen, SPL; Poon, WT; Mak, CM; Lam, CW; Kwong, YL; Chan, AYW; Tam, S2011405
Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndromeMak, CM; Sheng, B; Lee, HHC; Lau, KK; Chan, WT; Lam, CW; Chan, YW2011170
Molecular basis of von Hippel-Lindau syndrome in Chinese patientsSiu, 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, AYW2011302
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