Results 1 to 12 of 12
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TypeTitleAuthor(s)YearViews
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, AYW2012118
 
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, AYW2012100
 
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, AYW201263
 
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, YWA2011212
 
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, AYW2011206
 
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, AYW2011205
 
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, AYW2011304
 
Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, ChinaMak, CM; Ko, CH; Lam, CW; Lau, WL; Siu, WK; Chen, SPL; Law, CY; Lai, CK; Yu, CM; Chan, AYW2011131
 
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patientsMak, CM; Chan, KY; Yau, EKC; Chen, SPL; Siu, WK; Law, CY; Lam, CW; Chan, AYW2011127
 
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumorsSiu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW2011137
 
Maternally inherited leigh syndrome: An unusual cause of infantile apneaChau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP2010211
 
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong ChineseMak, 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, YW2010242
 
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