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. Inborn errors of metabolism in infancy: a guide to diagnosis. So, again, to reinforce, since IEMs have very specific non specific presentations, the goal in the ER is not to specifically diagnose the IEM.
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