Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
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ABSTRACT:
SUBMITTER: Kubaski F
PROVIDER: S-EPMC5436936 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Publications
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
Kubaski Francyne F Brusius-Facchin Ana Carolina AC Mason Robert W RW Patel Pravin P Burin Maira G MG Michelin-Tirelli Kristiane K Kessler Rejane Gus RG Bender Fernanda F Leistner-Segal Sandra S Moreno Carolina A CA Cavalcanti Denise P DP Giugliani Roberto R Tomatsu Shunji S
Prenatal diagnosis 20170312 5
<h4>Objective</h4>The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies.<h4>Method</h4>Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized p ...[more]
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