Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9360-2
Reference18 articles.
1. An Y, Young SP, Hillman SL, Van Hove JLK, Chen Y-T et al (2000) Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal Biochem 287(1):136–143
2. An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corzo D, Chen Y-T (2005) Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 85(4):247–254
3. Ausems M et al. (1999) Frequency of glycogen storage disease type II in the Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 7:713–716
4. Baldwin RP (1999) Electrochemical determination of carbohydrates: enzyme electrodes and amperometric detection in liquid chromatography and capillary electrophoresis. J Pharm Biomed Anal 19(1–2):69–81
5. Chamoles NA et al (2004) Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 347(1–2):97–102
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