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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… Click to show full 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 accumulation of precursors to the detriment of the products of this pathway (Fukao and Nakamura, 2019). The central nervous system is commonly affected in several of these disorders.
Keywords:
metabolic diseases;
advances pathophysiology;
inherited metabolic;
pathophysiology inherited;
recent advances
Journal Title: International Journal of Developmental Neuroscience
Year Published: 2020
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Journal Title: International Journal of Developmental Neuroscience
Year Published: 2020
Link to full text (if available)
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recommendations!