2023
DOI: 10.3390/children10030530
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PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

Abstract: The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors … Show more

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References 26 publications
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