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New biomarker found for group of rare metabolic diseases

August 8, 2017

A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of Medicine at the University of Pennsylvania. Their findings are described in Human Molecular Genetics.

Development of treatments for the neurological symptoms of mucopolysaccharidoses (MPS), a family of rare genetic disorders, have been hindered by the lack of objective measures of the extent of central nervous system (CNS) damage in patients.

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