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Published in 2020 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10007
Abstract: Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in different types of proteins, including enzymes, structural proteins or transporters. The blockage of a metabolic pathway leads to an…
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Keywords:
metabolic diseases;
advances pathophysiology;
inherited metabolic;
pathophysiology inherited ... See more keywords