Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.04.013
Abstract: Deficiency in ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway, leads to an accumulation of protoporphyrin IX (PPIX) that causes a severely painful phototoxic reaction of the skin in patients with erythropoietic protoporphyria… read more here.
Keywords: erythropoietic protoporphyria; aminolevulinic acid; acid synthase; epp patients ... See more keywords
Lethal ALAS2 mutation in males X‐linked sideroblastic anaemia
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DOI: 10.1111/bjh.14164
Abstract: X-linked Sideroblastic Anaemia (XLSA, Mendelian Inheritance in Man reference 300751), the most common type of congenital sideroblastic anaemia (CSA), results from germline mutations in the erythroid-specific form of the 5-aminolevulinate synthase gene (ALAS2). ALAS2 is… read more here.
Keywords: linked sideroblastic; cell; sideroblastic anaemia; anaemia ... See more keywords