Results 1 to 20 of 59
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TypeTitleAuthor(s)YearViews
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, AYW20143
 
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy
Journal:
Eur J Paediatr Neurol
Chong, YK; Ma, LC; Lo, KL; Lee, CK; Mak, CM; Kan, NCA; Lam, CW20142
 
Effect of the sound of dental equipment on dental anxiety
Proceedings/Conference:
The 11th International Congress on Noise as a Public Health Problem, Nara, Japan
Wong, HM; Mak, CM20142
 
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong
Journal:
J Med Screen
Lee, HHC; Mak, CM; Poon, WKG; Wong, KY; Lam, CW20143
 
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, S201348
 
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, CM201347
 
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, HM2013183
 
Inborn errors of metabolism and expanded newborn screening: review and update
Journal:
Crit Rev Clin Lab Sci
Mak, CM; Lee, HHC; Chan, AYW; Lam, CW20132
 
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, HM201269
 
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, VCN201270
 
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, AYW2012229
 
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, S201231
 
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, AYW2012166
 
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, AYW2012148
 
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, AYW2012114
 
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, AYW2012106
 
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, YW2011252
 
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, L2011277
 
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, YWA2011408
 
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, AYW2011278
 
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