Results 1 to 20 of 22
Page 1 of 2  Next >
TypeTitleAuthor(s)YearViews
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, VCN201425
 
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis
Journal:
Hong Kong Med J
Lee, HHC; Poon, KH; Lai, CK; Au, KM; Siu, TS; Lai, JP; Mak, CM; Yuen, YP; Lam, CW; Chan, AYW20140
 
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 Kong
Journal:
Clin Biochem
Mak, CM; Lam, CW; Chim, S; Siu, TS; Ng, KF; Tam, S201347
 
Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient
Journal:
Clin Chim Acta
Cho, SY; Siu, TS; Ma, O; Tam, S; Lam, CW201345
 
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria
Journal:
Hong Kong Medical Journal
Yeung, CW; Yau, MM; Ma, CK; Siu, TS; Tam, S; Lam, CW201347
 
Arginase deficiency with new phenotype and a novel mutation: Contemporary Summary
Journal:
Pediatric Neurology
Tsang, JPK; Poon, WL; Luk, HM; Fung, CW; Ching, CK; Mak, CM; Lam, CW; Siu, TS; Tam, S; Wong, VCN201268
 
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lee, HCH; Lai, CK; Yau, KCE; Siu, TS; Mak, CM; Yuen, YP; Chan, KY; Tam, S; Lam, CW; Chan, AYW2012225
 
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
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Siu, WK; Mak, CM; Siu, SLY; Siu, TS; Pang, CY; Lam, CW; Kwong, NS; Chan, AYW2012161
 
Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kong
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://www.cmj.org/
Lee, 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, AYW2011269
 
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants
Journal:
Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html
Mak, 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, AYW2011273
 
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Journal:
Diagnostic Molecular Pathology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Lee, HCH; Lai, CK; Siu, TS; Yuen, YP; Chan, KY; Chan, AYW; Tam, S; Mak, CM; Lam, CW2010250
 
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
Journal:
Molecular Genetics and Metabolism
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Mak, 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, YW2010278
 
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
Publisher:
Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Lee, HHC; Lee, RSY; Lai, CK; Yuen, YP; Siu, TS; Chan, AYW; Lam, CW2010306
 
DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lau, KC; Lam, CW; Fong, B; Siu, TS; Tam, S200987
 
Analysis of melamine cyanurate in urine using matrix-assisted laser desorption/ionization mass spectrometry
Journal:
Analytical Chemistry
Publisher:
American Chemical Society. The Journal's web site is located at http://pubs.acs.org/ac
Tang, HW; Ng, KM; Chui, SSY; Che, CM; Lam, CW; Yuen, KY; Siu, TS; Lan, LCL; Che, X2009237
 
A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Kong, APS; Tsui, TKC; Ozaki, R; Chan, HM; Tong, SF; Siu, TS; Tam, S; Chan, JCN2008157
 
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
Journal:
Journal of inherited metabolic disease
Publisher:
Springer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955
Mak, CM; Siu, TS; Lam, CW; Chan, GC; Poon, GW; Wong, KY; Low, LC; Tang, NL; Li, SK; Lau, KY; Kwong, NS; Tam, S2007164
 
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
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Lee, KP; Ng, KF; Siu, TS; Chan, HM; Tam, S200783
 
Cerebellar degeneration and folate deficiency due to cough misture abuse
Journal:
Haematologica
Publisher:
Fondazione Ferrata Storti.
Au, WY; Cheng, TS; Siu, TS; Yuen, KY2005118
 
Neurocognitive evaluation and plasma clozapine concentrations in Chinese patients with treatment-refractory schizophrenia
Proceedings/Conference:
International Journal of Neuropsychopharmacology
Publisher:
Cambridge University Press. The Journal's web site is located at http://journals.cambridge.org/action/displayJournal?jid=PNP
Chen, RYL; Siu, TS; Tam, S; Chen, EYH200284
 
Page 1 of 2  Next >
Export Records
Step 1: Select content and export format
  • Citation only
Step 2: Select export method
  • Download