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Novel retinal findings in peroxisomal biogenesis disorders

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0 Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2018.1430241

Abstract: ABSTRACT Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy.… read more here.

Keywords: biogenesis disorders; findings peroxisomal; peroxisomal biogenesis; retinal findings ... See more keywords