Associated Papers
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.
Khalilian S et al.
Bmc Medical Genomics, 2025
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Mares Beltran CF et al.
Genes, 2024
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J et al.
European Journal of Human Genetics : Ejhg, 2004
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