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Article

The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein.

Prenatal diagnosis - 1 Apr 2004

Lazebnik Noam, Lazebnik Roee S

Abstract excerpt

Congenital erythropoietic porphyria (CEP), also termed Günther's disease, is extremely rare and is inherited as an autosomal recessive trait. The mutation that causes the most severe deficiency of the enzyme uroporphyrinogen III synthase (URO-synthase) is C73R. Inheritance of two abnormal alleles results in the accumulation of porphyrins of isomer type I that are biologically useless but cause a wide spectrum of...

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Identifiers

PMID: 15065102
DOI: 10.1002/pd.852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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