Sweet! A Metabolic Disorders focused podcast episode
PEMBlog
MARCH 27, 2024
She is a member of the Clinical Genome Resource Inborn Errors of Metabolism (IEM) Clinical Domain Working Group, where as a biocurator she assesses the pathogenicity of variants in IEM-associated genes to facilitate expedited genetic diagnosis for IEMs. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatr Rev.
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