[Metabolic diseases caused by alterations in transporters].

Abstract excerpt

Metabolic diseases caused by transporter dysfunction are inherited disorders resulting from defects in membrane transport proteins. These proteins allow the passage of nutrients, ions, and other molecules across cell membranes. If there is a malfunction, substances do not enter the cell, are not reabsorbed, or are not distributed correctly, even if present in normal amounts. Intracellular metabolism is normal;...

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