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Research

Orphan diseases, including MSUD, are caused by a mutation in a gene. This mutated gene is unable to produce messenger RNA (mRNA), which carries the information from the gene needed to produce a protein.

Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Change the lives

of MSUD adults and children

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