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  1. Article

    Open Access

    Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

    Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develo...

    Tanya J. Lehky, Paul Sackstein, Deborah Tamura, Martha Quezado, Tianxia Wu… in BMC Neurology (2021)

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  2. No Access

    Chapter

    Management of Xeroderma Pigmentosum

    Xeroderma pigmentosum (XP) is a rare, autosomal recessive inherited disease of DNA repair with a high incidence of sunlight-induced cancer of the skin and eye. Approximately half of the patients have marked bu...

    Deborah Tamura, Ryusuke Ono, John J. DiGiovanna, Kenneth H. Kraemer in DNA Repair Disorders (2019)

  3. Article

    Open Access

    The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)

    To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with di...

    **-** Lai, Yen-Chun Liu, Meghna Alimchandani… in Acta Neuropathologica Communications (2013)

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