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
- Ana Carolina Moraes Mattos
- Iago Maciel Santiago da Silva
- Ana Carolina do Amaral Santos de Carvalho Rocha
- Thaís Baroni Azzi
- Pollini Pereira de Moraes
- Marco Antônio Netto Armando Rangel
- Andre Luis Yamamoto Nose
- Daniel de Oliveira Araujo
- Guilherme Thuler Tafuri Marcondes
- Patrick de Abreu Cunha Lopes
