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Sweet! A Metabolic Disorders focused podcast episode

PEMBlog

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. Updated 2023 Jul 17]. Inborn errors of metabolism in infancy: a guide to diagnosis.

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Aging and Homelessness: Margot Kushel

GeriPal

We would drill down on the tenth differential diagnosis of medium vessel vasculitis, and then we would discharge them back out to the streets. Why was I spending all this time figuring out the detailed differential diagnosis of these obscure diseases when we weren’t actually attending to what people really needed?