Associated Papers
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
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
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
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Zhang Z et al.
Human Mutation, 1999
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