Sweet! A Metabolic Disorders focused podcast episode
PEMBlog
MARCH 27, 2024
She did her MD/PhD at Columbia University, where she investigated the diagnostic utility of exome sequencing for kidney disease. So, again, to reinforce, since IEMs have very specific non specific presentations, the goal in the ER is not to specifically diagnose the IEM. You can contact her via email at egroopman@childrensnational.org.
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