Concepedia

Publication | Open Access

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

DOIFull Paper Access

69

Citations

43

References

2016

Year

Francyne Kubaski, Robert W. Mason, Akiko Nakatomi, Haruo Shintaku, Li Xie, Naomi N. van Vlies, Heather J. Church, Roberto Giugliani, Hironori Kobayashi, Seiji Yamaguchi,
Journal of Inherited Metabolic Disease

Abstract

Combination of levels of two or more different GAGs improves separation of MPS patients from unaffected controls, indicating that GAG measurements are potentially valuable biomarkers for newborn screening for MPS.

References

YearCitations

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