Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate

Clinical Chemistry

Volumn 54, Issue 12, 2008, Pages 2080-2082

  Jeong, Ji Seon ^a   Kwon, Ha Jeong ^a   Lee, Yong Moon ^b   Yoon, Hye Ran ^c   Hong, Seon Pyo ^a  

^a Kyung Hee University   (South Korea)

^b Chungbuk National University   (South Korea)

^c Duksung Women's University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE; UNCLASSIFIED DRUG;

AMPEROMETRY; ANION EXCHANGE CHROMATOGRAPHY; COLORIMETRY; CONTROLLED STUDY; FALSE POSITIVE RESULT; GALACTOSEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LETTER; QUANTITATIVE ANALYSIS; SCREENING TEST;

ADULT; ANION EXCHANGE RESINS; BLOOD SPECIMEN COLLECTION; CHROMATOGRAPHY, ION EXCHANGE; GALACTOSE; GALACTOSEMIAS; GALACTOSEPHOSPHATES; HUMANS; INFANT, NEWBORN;

EID: 57149095712     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2008.107847     Document Type: Letter

References (5)

1. Leslie ND. Insight into the pathogenesis of galactosemia. Annu Rev Nutr 2003;23:59-80.
2. Fujimoto A, Okano Y, Miyagi T, Isshiki G, Oura T. Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. Clin Chem 2000;46:806-10.
3. Diepenbrock F, Heckler R, Schickling H, Engelhard T, Bock D, Sander J. Colorimetric determination of galactose and galactose-1-phosphate from dried blood. Clin Biochem 1992;25:37-9.
4. Jeong JS, Yoon HR, Hong SP. Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection. J Chromatogr A 2007;1140:157-62.
5. Jeong JS, Kwon HJ, Yoon HR, Lee YM, Choi TY, Hong SP. A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis. Anal Biochem 2008;376:200-5.