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

@article{Kubaski2016NewbornSF,
  title={Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry},
  author={Francyne Kubaski and Robert W. Mason and Akiko Nakatomi and Haruo Shintaku and Li Xie and Naomi N. van Vlies and H. Church and Roberto Giugliani and Hironori Kobayashi and Seiji Yamaguchi and Yasuyuki Suzuki and Tadao Orii and Toshiyuki Fukao and Adriana Maria Monta{\~n}o and Shunji Tomatsu},
  journal={Journal of Inherited Metabolic Disease},
  year={2016},
  volume={40},
  pages={151-158}
}
Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral, and/or brain damage, highlighting a need for early diagnosis. This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5). Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II. Heparan sulfate… CONTINUE READING
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