Associated Papers
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Bilamge A et al.
Journal of Child Neurology, 2025
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
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.
Barillari MR et al.
Molecular Genetics and Metabolism Reports, 2020
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M et al.
International Journal of Molecular Sciences, 2019
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
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
Thoms S et al.
Bmc Medical Genetics, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Rational diagnostic strategy for Zellweger syndrome spectrum patients.
Krause C et al.
European Journal of Human Genetics : Ejhg, 2009
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
Rosewich H et al.
Journal of Medical Genetics, 2005
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