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TypeTitleAuthor(s)YearViews
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, S201345
 
Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm
Journal:
Clinica Chimica Acta
Lam, CW; Mak, CM201343
 
Pollutant dispersion in a natural ventilated dental clinic
Journal:
Building Services Engineering Research & Technology
Publisher:
Sage Publications Ltd. The Journal's web site is located at http://bse.sagepub.com
Zhang, W; Mak, CM; Wong, HM2013177
 
Numerical study of pollutant dilution in a natural ventilated dental clinic
Proceedings/Conference:
The 2012 International Symposium on Public Health and Environmetal Protection
Mak, CM; Zhang, W; Wong, HM201265
 
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, AYW2012220
 
Hypoglycaemia due to autoimmune insulin syndrome in a 78-year-old Chinese man
Journal:
Br J Biomed Sci
Yeung, CW; Mak, CM; Lam, KSL; Tam, S201228
 
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, AYW2012153
 
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
Journal:
Journal of Clinical Pathology
Publisher:
BMJ Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Mak, 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, AYW2012137
 
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation
Journal:
Diagnostic Molecular Pathology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Mak, CM; Lee, CY; Lam, CW; Siu, WK; Hung, VCN; Chan, AYW201299
 
Parental attitudes on expanded newborn screening in Hong Kong
Journal:
Public Health
Publisher:
WB Saunders Co Ltd. The Journal's web site is located at http://www.elsevier.com/locate/puhe
Mak, CM; Lam, CW; Law, CY; Siu, CWK; Kwong, LL; Chan, KL; Chan, WT; Chow, KM; Lee, KW; Chan, WP; Chan, AYW201292
 
Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Lau, KC; Mak, CM; Tsang, MW; Chan, YW2011237
 
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
Journal:
Journal of Child Neurology
Publisher:
Sage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Yeung, WL; Wong, VCN; Chan, KY; Hui, J; Fung, CW; Yau, E; Ko, CH; Lam, CW; Mak, CM; Siu, S; Low, L2011268
 
Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessment
Journal:
Hong Kong Journal of Nephrology
Publisher:
Lippincott Williams & Wilkins Asia. The Journal's web site is located at http://www.hkjn.org/
Siu, WK; Mak, CM; Lee, HCH; Tam, S; Lee, J; Chan, TM; Fung, KSS; Tong, KLM; Chan, YWA2011395
 
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, AYW2011260
 
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, AYW2011265
 
Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment
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; Law, CY; Lai, ST; Tsang, TY; Siu, CWK; To, WK; Leung, KF; Mak, CM; Poon, WT; Chan, PKS; Chan, YW2011250
 
Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia
Journal:
Pathology
Publisher:
Informa Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00313025.asp
Chen, SPL; Poon, WT; Mak, CM; Lam, CW; Kwong, YL; Chan, AYW; Tam, S2011438
 
Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
Journal:
International Journal of Neuroscience
Publisher:
Informa Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00207454.asp
Mak, CM; Sheng, B; Lee, HHC; Lau, KK; Chan, WT; Lam, CW; Chan, YW2011211
 
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://med.wanfangdata.com.cn/Paper/PeriodicalInfo.aspx?periodicalID=zhcmj
Siu, 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, AYW2011346
 
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