Associated Papers
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Bilamge A et al.
Journal of Child Neurology, 2025
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
40519747 (PubMed )
Supplement: mmc1.xlsx › Known_pathogenic_variants
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Kawai H et al.
Brain & Development, 2023
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Herijgers D et al.
Ophthalmic Genetics, 2021
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.
Lu P et al.
Translational Pediatrics, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.
Bousfiha A et al.
Human Genome Variation, 2017
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