Associated Papers
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
Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.
Alamatsaz M et al.
Journal of Cellular Biochemistry, 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
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Klouwer FCC et al.
Journal of Inherited Metabolic Disease, 2019
Cholic acid therapy in Zellweger spectrum disorders.
Berendse K et al.
Journal of Inherited Metabolic Disease, 2016
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Cho SY et al.
Annals of Clinical and Laboratory Science, 2011
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