Associated Papers
Mitochondria and Peroxisome Crosstalk in Peroxisome Biogenesis Disorder 8A Caused by a Rare Variant in PEX16 Gene.
Wehbe M et al.
Clinical Genetics, 2025
Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.
Gomez VA et al.
Disease Models & Mechanisms, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung A et al.
Neurogenetics, 2022
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.
Bacino C et al.
Molecular Genetics and Metabolism Reports, 2015
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C et al.
Neurogenetics, 2013
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Peroxisome biogenesis disorders.
Steinberg SJ et al.
Biochimica Et Biophysica Acta, 2006
Peroxisome biogenesis and peroxisome biogenesis disorders.
Fujiki Y
Febs Letters, 2000
[Biogenesis of peroxisome--targeting signal and peroxisome assembly factor].
Fujiki Y
No to Hattatsu = Brain and Development, 1992
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