Käsitteen tiedot
Käytettävä termi
Porphyria, Variegate
Tyyppi
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Topical Descriptor
Yläkäsite
Ohjaustermit
- Deficiency, Ppox
- Porphyria, South African Type
- Porphyria Variegata
- Porphyria Variegate
- Ppox Deficiencies
- Ppox Deficiency
- Protoporphyrinogen Oxidase Deficiency
- Variegate Porphyria
Käyttöhuomautus
- An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
Huomautus muutoshistoriasta
- 2005; use PORPHYRIA, HEPATIC 1993-2004
Muunkieliset termit
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ruotsi
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suomi
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porphyria variegata
URI
http://www.yso.fi/onto/mesh/D046350
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