Results 1 to 20 of 28
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TypeTitleAuthor(s)YearViews
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
 
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 yearsLee, HHC; Lam, CW; Yuen, YP; Lai, CK; Chan, KY; Chan, AYW201248
 
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
 
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, AYW2011303
 
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type IILee, HCH; Lai, CK; Siu, TS; Yuen, YP; Chan, KY; Chan, AYW; Tam, S; Mak, CM; Lam, CW2010196
 
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, AYW2010130
 
Maternally inherited leigh syndrome: An unusual cause of infantile apneaChau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP2010210
 
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, YW2010241
 
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemiaLee, HHC; Lee, RSY; Lai, CK; Yuen, YP; Siu, TS; Chan, AYW; Lam, CW2010241
 
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutationChan, KY; Lam, CW; Lee, LP; Tong, SF; Yuen, YP200878
 
Chemical pathology case conference - Common endocrine testsTai, MHL; Mak, CM; Yuen, YP; Lam, CW; Chiu, RWK; Chan, MHM; Chan, AYW; Shek, ACC; Mak, TWL; Poon, WT; Tam, S2007106
 
Chemical pathology case conference - Laboratory tests for diabetes mellitusYuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Poon, WT; Shek, ACC; Tai, MHL; Tam, S; Chan, AYW2007122
 
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delayYuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW200768
 
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuriaYuen, YP; Lam, CW; Lai, CK; Tong, SF; Li, PS; Tam, S; Kwan, EYW; Chan, SY; Tsang, WK; Chan, KY; Mak, WL; Cheng, CW; Chan, YW2006106
 
Chemical pathology case conference - Renal function testsYuen, YP; Tam, S; Chan, AKC; Mak, TWL; Lam, CW; Shek, ACC; Chiu, RWK; Chan, MHM; Tai, MHL; Chan, AYW2006174
 
Chemical pathology case conference - Assessment of iron status in general practiceMak, CM; Chiu, RWK; Lam, CW; Chan, AYW; Mak, TWL; Shek, A; Chan, MHM; Tai, MHL; Yuen, YP; Poon, WT; Tam, S2006114
 
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndromeLam, CW; Yuen, YP; Cheng, WF; Chan, YW; Tong, SF200685
 
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasiaLam, CW; Cheng, AWF; Poon, WT; Yuen, YP; Huen, KF200657
 
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, CC200586
 
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