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Sweet! A Metabolic Disorders focused podcast episode

PEMBlog

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. Now, newborn screening, or NBS, includes testing newly born infants for certain IEMs. References Jeanmonod R, Asuka E, Jeanmonod D.