Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses
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DOI: 10.1038/s41436-018-0136-z
Abstract: PurposeExpanding treatments for the mucopolysaccharidoses—a family of genetic disorders—place unprecedented demands for accurate, timely diagnosis because best outcomes are seen with early initiation of appropriate therapies. Here we sought to improve the diagnostic odyssey by… read more here.
Keywords: diagnosis; disease subtype; subtype specific; glycosaminoglycan fragments ... See more keywords