Porphyrias and haem related disorders

The hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway characterised by acute neurovisceral symptoms, skin lesions or both. Each porphyria is caused by abnormal function of a separate enzymatic step resulting in a specific accumulation of haem precur...

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Veröffentlicht in:	La revue de medecine interne 2016-03, Vol.37 (3), p.173-185
Hauptverfasser:	Peoc'h, K, Martin-Schmitt, C, Talbi, N, Deybach, J-C, Gouya, L, Puy, H
Format:	Artikel
Sprache:	fre
Schlagworte:	Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - therapy Hematologic Diseases - diagnosis Hematologic Diseases - genetics Hematologic Diseases - metabolism Hematologic Diseases - therapy Heme - genetics Heme - metabolism Humans Porphyria, Acute Intermittent - diagnosis Porphyria, Acute Intermittent - genetics Porphyria, Acute Intermittent - metabolism Porphyria, Acute Intermittent - therapy Porphyrias - diagnosis Porphyrias - epidemiology Porphyrias - genetics Porphyrias - therapy
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