{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:24:02Z","timestamp":1791469442908,"version":"4.3.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2001,3]]},"abstract":"<jats:p> Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus. <\/jats:p>","DOI":"10.1007\/s100240010143","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T06:40:57Z","timestamp":1027579257000},"page":"180-184","source":"Crossref","is-referenced-by-count":25,"title":["Congenital Erythropoietic Porphyria: Prenatal Diagnosis and Autopsy Findings in Two Sibling Fetuses"],"prefix":"10.1177","volume":"4","author":[{"given":"F.","family":"Da\u00efkha-Dahmane","sequence":"first","affiliation":[{"name":"Service de Biologie du D\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Facult\u00e9 de M\u00e9decine Xavier Bichat, 48 Boulevard S\u00e9rurier, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Dommergues","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Foetale, H\u00f4pital Necker Enfants-Malades, Facult\u00e9 de M\u00e9decine Paris V, Paris, 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