5C58.12Ангилал

Erythropoietic porphyrias

Тодорхойлолт

Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.

Индексийн нэр томьёо Index terms · 18

Erythropoietic porphyriasErythropoietic protoporphyriaFerrochelatase deficiencyHeme synthetase deficiencyEPP - [erythropoietic protoporphyria]Erythropoietic protoporphyria due to ferrochelatase deficiencyEPP due to ferrochelatase deficiencyFECH-deficient EPPErythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2EPP due to gain of function of erythroid-specific aminolevulinic acid synthase 3X-linked dominant protoporphyriaX-linked protoporphyriaXLDPP - [X-linked dominant protoporphyria]XLP - [X-linked protoporphyria]Congenital erythropoietic porphyriaGünther diseaseHereditary erythropoietic porphyriaUroporphyrinogen III synthase deficiency

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