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Browsing by Author Siu, TS
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Showing results 14 to 24 of 24
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Title
Author(s)
Issue Date
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis
Journal:
Hong Kong Medical Journal
Lee, HHC
Poon, KH
Lai, CK
Au, KM
Siu, TS
Lai, JPS
Mak, CM
Yuen, LYP
Lam, CW
Chan, AYW
2014
Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome
Journal:
Journal Of Inherited Metabolic Disease
Ho, CCA
Fung, CW
Siu, TS
Ma, OCK
Lam, CW
Tam, S
Wong, VCN
2014
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 screening
Journal:
Diagnostic Molecular Pathology
Siu, WK
Mak, CM
Siu, SLY
Siu, TS
Pang, CY
Lam, CW
Kwong, NS
Chan, AYW
2012
Neurocognitive evaluation and plasma clozapine concentrations in Chinese patients with treatment-refractory schizophrenia
Proceeding/Conference:
International Journal of Neuropsychopharmacology
Chen, RYL
Siu, TS
Tam, S
Chen, EYH
2002
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Journal:
Clinica Chimica Acta
Lee, HCH
Lai, CK
Yau, KCE
Siu, TS
Mak, CM
Yuen, YP
Chan, KY
Tam, S
Lam, CW
Chan, AYW
2012
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia
Journal:
Hong Kong Medical Journal
Lee, HHC
Lee, RSY
Lai, CK
Yuen, YP
Siu, TS
Chan, AYW
Lam, CW
2010
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRTHongKong), in a Chinese teenager with recurrent gouty arthritis
Journal:
Clinica Chimica Acta
Lam, CW
Lee, KP
Ng, KF
Siu, TS
Chan, HM
Tam, S
2007
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome
Journal:
Clinica Chimica Acta
Lam, CW
Kong, APS
Tsui, TKC
Ozaki, R
Chan, HM
Tong, SF
Siu, TS
Tam, S
Chan, JCN
2008
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient
Journal:
Clinica Chimica Acta
Cho, SY
Siu, TS
Ma, O
Tam, S
Lam, CW
2013
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Journal:
Diagnostic Molecular Pathology
Lee, HCH
Lai, CK
Siu, TS
Yuen, YP
Chan, KY
Chan, AYW
Tam, S
Mak, CM
Lam, CW
2010
The variability of the hepatitis B virus genome: Statistical analysis and biological implications
Journal:
Molecular Biology and Evolution
Lauder, IJ
Lin, HJ
Lau, JYN
Siu, TS
Lai, CL
1993