英语词汇“hepatoerythropoetic porphyria”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	hepatoerythropoetic porphyria
释义	hepatoerythropoetic porphyria hepatoerythropoetic porphyria An autosomal recessive disorder (OMIM:176100) characterised by severe cutaneous porphyria that develops in infancy. Levels of uroporphyrinogen decarboxylase are very low in erythrocytes. Molecular pathology Caused by defects of UROD, which encodes uroporphyrinogen decarboxylase, an enzyme in the heme biosynthetic pathway.
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