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Activities of Biochemistry Unit

. Last Updated: 01 October 2015Hits: 26139

1. Research

  1. Method development and evaluation for detection of amino acids and organic acids in biological fluids – 1998
  2. Development of method for detection of mucopolysacchrides in urine by thin layer chromatography – 1999.
  3. Enzymatic measurement of total and free Carnitine  using spectrophotometry –1999.
  4. Method development and evaluations for Homocysteine using HPLC and ELISA – 1999.
  5. Total Galactose and GALT measurement using spectrofluorometer, 2001
  6. Glycosaminoglycan measurement using Di Methylmethylene Blue, 2002
  7. High resolution electrophoresis for urine glycosaminoglycan- 2003
  8. Rapid detection of Argininosuccinic acids for the screening of Argininosuccinase deficiency-2003.
  9. Detection of amino acids and acylcarnitines in dried blood spot by Tandem Mass Spectroscopy (LC MS/MS) as a new screening method for Inborn Error of Metabolism -2004.
  10. Plasma Chitotriosidase Assay as a screening tool for Lysosomal Storage Disease-2004
  11. Analysis of plasma Very Long Chain Fatty Acids and Phytanic Acids as diagnostic marker for peroxisomal disorders-2004
  12. Urinary oligosaccharide detection by thin layer chromatography as a screening for Oligosaccharidoses-2004-2008
  13. Method Comparison Between Tandem Mass Spectrometry and Amino Acid Analyser For Measurement Of Amino Acids In Serum -2004
  14. Method Evaluation for enzymatic analysis of  L-Carnitine in serum-2004
  15. Quantitative analysis of galactose in dried blood spot using fluorometric assay as a  screening method for galactosemia-2005
  16. Determination of urine orotic acids using HPLC for the diagnosis of Urea cycle defect-2005
  17. Citrin Deficiency screened by Tandem Mass Spectrometry using Dried Blood Spots-2006
  18. Rapid screening of Inborn Error of Metabolism in neonatal dried blood spot using Tandem Mass Spectrometry-2006-2008
  19. Biochemical profiling of purine and pyrimidine disorders-2007-2008
  20. Biochemical profiling of galactosemia in Malaysian Children- 2007-2009
  21. Development of Biotinidase enzyme assay using in-house reagent and its comparison between the commercial kit-2007-2008
  22. Plasma Chitotriosidase assay for screening Gaucher disease-2007-2008
  23. Urine succinylacetone detection by GCMS-2007-2008
  24. S-sulphocysteine quantitation in urine by HPLC-2007-2008
  25. Pipecolic acids for diagnosis of peroxisomal disorders using ion-exchange HPLC -2007-2010
  26. Screening of Pompe and Fabry in dried blood spot by enzyme assay-2008-2009
  27. Screening of 5 Lysosomal Storage Diseases in dried blood spot using LCMS/MS-2009-2011
  28. Delta ALA  quantitation in urine by using ion-exchange HPLC -2009-2010
  29. Confirmatory enzyme assays in leucocytes and plasma for diagnosis of Lysosomal Storage Disorders (Fabry, Pompe and MPS)-2010-2012
  30. Urinary and CSF Pterin for the diagnosis of pterins disorders and neurotransmitters using HPLC with fluorescence detector-2011
  31. Biogenic amines in urine and CSF for the diagnosis of neurotransmitters disorders using HPLC with electrochemical detector-2012.
  32. Pipecolic Acid as a marker for Pyridoxine-responsive seizure and Peroxisomal biogenesis disorder-2012
  33. Inherited metabolic disease in children with sudden death-2012
  34. Urine porphyrins and urine porphobilinogen by column test-2013
  35. Phenotype and genotype of Pompe disease in Malaysia children-2013

2. Diagnostic Services

 Biochem Table 1

Biochem Table 2

Biochem Table 3

Biochem Table 4

Biochem Table 5

Biochem Table 6

Biochem Table 6a

Biochem Table 6b





Diagnostic Facilities

sdcbiochem-TMSTandem Mass Spectrometry For Rapid IEM Screening

sdcbiochem-Biochrom30Fully Automated Amino Acid Analyser (Amino Acid Analysis)

sdcbiochem-GCMSGas Chromatography Mass Spectrometry For Organic Acid Analysis




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