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. Meaning that an individual must inherit two copies of the mutation, so one from each of his or her parents, to be affected. Pediatr Rev.
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