Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample
Author:
Affiliation:
1. ; Department of Paediatrics; University Medical School of Pécs; Pécs József A.u.7 7623 Hungary
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005359417508/fullpdf
Reference3 articles.
1. Oligosacharides in the urine of patients with glycoprotein storage diseases. Rapid detection by thin-layer chromatography;Humbel;Clin Chim Acta,1975
2. Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease;Paschke;J Inher Metab Dis,1992
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Quantitative hydrophilic interaction chromatography–mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma;Journal of Chromatography B;2015-09
2. A mass spectrometric strategy for profiling glycoproteinoses, Pompe disease, and sialic acid storage diseases;PROTEOMICS – CLINICAL APPLICATIONS;2008-04
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