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- W3119606951 abstract "Abstract Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl‐CoA‐binding domain containing‐protein 5 (ACBD5) in these interactions in human cells is emerging. Moreover, a few patients with retinal dystrophy and leukodystrophy caused by pathogenic variants in ACBD5 have been recently introduced. Here, we present a 36‐year‐old female with retinal dystrophy, leukodystrophy, and psychomotor regression due to a novel homozygous variant in ACBD5 . Our study adds to the growing knowledge of this peroxisomal disorder by providing phenotypic details of the first adult patient." @default.
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- W3119606951 date "2021-01-11" @default.
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- W3119606951 title "First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel <scp>ACBD5</scp> variant: A case report and review of literature" @default.
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- W3119606951 doi "https://doi.org/10.1002/ajmg.a.62073" @default.
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