Results 1 to 20 of 20
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TypeTitleAuthor(s)YearViews
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuriaYeung, CW; Yau, MM; Ma, CK; Siu, TS; Tam, S; Lam, CW201324
 
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
 
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patientCho, SY; Siu, TS; Ma, O; Tam, S; Lam, CW201324
 
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
 
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
 
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
 
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
 
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, YW2010240
 
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
 
DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese populationLau, KC; Lam, CW; Fong, B; Siu, TS; Tam, S200960
 
Analysis of melamine cyanurate in urine using matrix-assisted laser desorption/ionization mass spectrometryTang, HW; Ng, KM; Chui, SSY; Che, CM; Lam, CW; Yuen, KY; Siu, TS; Lan, LCL; Che, X2009188
 
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndromeLam, CW; Kong, APS; Tsui, TKC; Ozaki, R; Chan, HM; Tong, SF; Siu, TS; Tam, S; Chan, JCN2008106
 
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.Mak, CM; Siu, TS; Lam, CW; Chan, GC; Poon, GW; Wong, KY; Low, LC; Tang, NL; Li, SK; Lau, KY; Kwong, NS; Tam, S2007121
 
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRTHongKong), in a Chinese teenager with recurrent gouty arthritisLam, CW; Lee, KP; Ng, KF; Siu, TS; Chan, HM; Tam, S200767
 
Cerebellar degeneration and folate deficiency due to cough misture abuseAu, WY; Cheng, TS; Siu, TS; Yuen, KY2005105
 
Neurocognitive evaluation and plasma clozapine concentrations in Chinese patients with treatment-refractory schizophreniaChen, RYL; Siu, TS; Tam, S; Chen, EYH200270
 
Combined effect of isoflurane and esmolol on sympathetic responses to tracheal intubationYang, JC; Siu, TS; Ng, KF; Gong, Z; Tsui, SL; Wong, JS2000132
 
The variability of the hepatitis B virus genome: Statistical analysis and biological implicationsLauder, IJ; Lin, HJ; Lau, JYN; Siu, TS; Lai, CL199360
 
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