PORPHYRIA VARIEGATA AND PROTOPORPHYRINOGEN OXIDASE (PPOX) GENE: A CASE REPORT AND LITERATURE REVIEW
Variegated porphyria (VP) is a rare hereditary disease caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which in turn can potentially result in a variety of cutaneous and neurological symptoms.
PORPHYRIA VARIEGATA AND PROTOPORPHYRINOGEN OXIDASE (PPOX) GENE: A CASE REPORT AND LITERATURE REVIEW
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DOI: 10.22533/at.ed.1592202218047
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Palavras-chave: Porphyria Variegata, PPOX gene
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Keywords: Porphyria Variegata, PPOX gene
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Abstract:
Variegated porphyria (VP) is a rare hereditary disease caused by mutations in the protoporphyrinogen oxidase (PPOX) gene. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the body, which in turn can potentially result in a variety of cutaneous and neurological symptoms.
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Número de páginas: 8
- Guilherme Thuler Tafuri Marcondes
- Daniel de Oliveira Araujo
- Andre Luis Yamamoto Nose
- Marco Antônio Netto Armando Rangel
- Pollini Pereira de Moraes
- Thaís Baroni Azzi
- Ana Carolina do Amaral Santos de Carvalho Rocha
- Iago Maciel Santiago da Silva
- Ana Carolina Moraes Mattos
- Patrick de Abreu Cunha Lopes
