Sweet! A Metabolic Disorders focused podcast episode
PEMBlog
MARCH 27, 2024
Now, newborn screening, or NBS, includes testing newly born infants for certain IEMs. So, again, to reinforce, since IEMs have very specific non specific presentations, the goal in the ER is not to specifically diagnose the IEM. In other words, which features of the disease individuals with the mutation show for these conditions.
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