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. 2016 Jan;37(1):3-15; quiz 16-7, 47. Now, newborn screening, or NBS, includes testing newly born infants for certain IEMs. You won’t be able to diagnose them on history and physical alone.
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