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
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
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A et al.
International Journal of Molecular Sciences, 2019
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.
Rydzanicz M et al.
Journal of Applied Genetics, 2017
Select a paper to view details