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Titolo:
Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses
Autore:
Daikha-Dahmane, F; Dommergues, M; Narcy, F; Gubler, MC; Dumez, Y; Gauthier, E; Nordmann, Y; Nessmann, C; Terrasse, G; Muller, F;
Indirizzi:
Fac Med Xavier Bichat, Hop Robert Debre, Serv Biol Dev, F-75019 Paris, France Fac Med Xavier Bichat Paris France F-75019 ol Dev, F-75019 Paris, France Hop Necker Enfants Malad, Serv Med Foetale, Fac Med Paris 5, Paris, FranceHop Necker Enfants Malad Paris France e, Fac Med Paris 5, Paris, France Hop Cochin, Fac Med Cochin Port Royal, Serv Anat Pathol, Paris, France HopCochin Paris France hin Port Royal, Serv Anat Pathol, Paris, France Hop Necker Enfants Malad, Fac Med Paris 5, INSERM U423, Paris, France Hop Necker Enfants Malad Paris France ris 5, INSERM U423, Paris, France Hop Amer, Paris, France Hop Amer Paris FranceHop Amer, Paris, France Hop Louis Mourier, Fac Med Xavier Bichat, Dept Biochim, Paris, France Hop Louis Mourier Paris France vier Bichat, Dept Biochim, Paris, France Univ Paris 05, Hop Ambroise Pare, Serv Biochim, Paris, France Univ Paris 05 Paris France p Ambroise Pare, Serv Biochim, Paris, France
Titolo Testata:
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
fascicolo: 2, volume: 4, anno: 2001,
pagine: 180 - 184
SICI:
1093-5266(200103/04)4:2<180:CEPPDA>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
III SYNTHASE GENE; MUTATIONS; IDENTIFICATION; DISEASE;
Keywords:
congenital erythropoietic porphyria; fetuses sibs; prenatal diagnosis; hydrops fetalis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Daikha-Dahmane, F Ctr Hosp Intercommunal Poissy, Serv Anat Pathol, 10 Rue Champ Gaillard,BP 3082, F-78303 Poissy, France Ctr Hosp Intercommunal Poissy 10 Rue Champ Gaillard,BP 3082 Poissy France F-78303
Citazione:
F. Daikha-Dahmane et al., "Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses", PEDIATR D P, 4(2), 2001, pp. 180-184

Abstract

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 diagnosisof 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 19:47:29