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Amedeo Smart

Independent Medical Education


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Werner KM, Cox AJ, Qian E, Jain P, et al. D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Am J Med Genet A 2021 Oct 8. doi: 10.1002/ajmg.a.62520.
PMID: 34623748


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