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The specific enzyme deficiencies in five of the six known varieties of porphyrias

✍ Scribed by A. Gajdos; M. Gajdos-Török


Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
445 KB
Volume
9
Category
Article
ISSN
0020-711X

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Genetic analysis of Variegate Porphyria
✍ Mauro D'Amato; Margherita Bonuglia; Simona Barile; Daniela Griso; Annelisa Macri 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB

Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the