Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
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DOI: 10.3389/fgene.2022.807822
Abstract: Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and… read more here.
Keywords: acidemia; pccb gene; novel mutations; late onset ... See more keywords