Fifteen years experience: Egyptian metabolic lab
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the metabolic pathway and accumulation of metabolit...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
SpringerOpen
2014-10-01
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Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863014000834 |