Sweet! A Metabolic Disorders focused podcast episode
PEMBlog
MARCH 27, 2024
So, again, to reinforce, since IEMs have very specific non specific presentations, the goal in the ER is not to specifically diagnose the IEM. So those would be a plasma sample for plasma amino acids, organic acids, acyl carnitine, other compounds, which your friendly geneticist, when you consult them will be incredibly happy you got.
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