Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry-Reference-Cited by-同舟云学术

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

Published:2016-10-07 Issue:1 Volume:40 Page:151-158
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kubaski Francyne,Mason Robert W.,Nakatomi Akiko,Shintaku Haruo,Xie Li,van Vlies Naomi N.,Church Heather,Giugliani Roberto,Kobayashi Hironori,Yamaguchi Seiji,Suzuki Yasuyuki,Orii Tadao,Fukao Toshiyuki,Montaño Adriana M.,Tomatsu Shunji

Funder

National Institutes of Health

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9981-6.pdf

Reference51 articles.

1. Auclair D, Hopwood JJ, Brooks DA et al (2003) Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab 78:163–174

2. Baldo G, Matte U, Artigalas O et al (2011) Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. Mol Genet Metab 103:197–198

3. Baldo G, Mayer FQ, Martinelli BZ et al (2013) Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. Mol Genet Metab 109:33–40

4. Beck M, Braun S, Coerdt W et al (1992) Fetal presentation of Morquio disease type A. Prenat Diagn 12:1019–1029

5. Blanchard S, Sadilek M, Scott CR et al (2008) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 54:2067–2070

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