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. Meaning that an individual must inherit two copies of the mutation, so one from each of his or her parents, to be affected. And not all IEMs are included on NBS, NBS can miss individuals with IEMs.
59 
Let's personalize your content