Associated Papers
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.
Alayoubi AM et al.
Annals of Medicine, 2025
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.
He Y et al.
Translational Pediatrics, 2021
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
Lotz-Havla AS et al.
Frontiers in Genetics, 2021
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
Preimplantation genetic diagnosis for Zellweger syndrome.
Al-Sayed M et al.
Fertility and Sterility, 2007
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
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