Zobrazeno 1 - 10
of 199
pro vyhledávání: '"Uroporphyrinogen I"'
Autor:
Marine Legendre, Bénédicte Sudrié-Arnaud, Fanny Pelluard, Sarah Snanoudj, Abdellah Tebani, Soumeya Bekri
Publikováno v:
Genes, Vol 12, Iss 1828, p 1828 (2021)
Genes
Genes
Congenital erythropoietic porphyria (CEP, OMIM #606938) is a severe autosomal recessive inborn error of heme biosynthesis. This rare panethnic disease is due to a deficiency of uroporphyrinogen III synthase (or cosynthase). Subsequently, its substrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287183a5d1d01f5f56b3d3ee2fa91639
https://www.mdpi.com/2073-4425/12/11/1828
https://www.mdpi.com/2073-4425/12/11/1828
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1975 Aug 01. 72(8), 2979-2983.
Externí odkaz:
https://www.jstor.org/stable/64487
Akademický článek
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A porfiria aguda intermitente é uma doença autossômica dominante, decorrente de um distúrbio na via biossintética do heme, causado pela redução dos níveis da enzima uroporfirinogênio-I-sintetase. As manifestações clínicas envolvem o siste
Autor:
Robert J. Desnick, Angelika Erwin
Publikováno v:
Mol Genet Metab
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392a51ca476f40ce72e79e1fa1bb72ba
https://europepmc.org/articles/PMC6597325/
https://europepmc.org/articles/PMC6597325/
Publikováno v:
Case Reports in Dermatology
Case Reports in Dermatology, Vol 5, Iss 1, Pp 105-110 (2013)
Case Reports in Dermatology, Vol 5, Iss 1, Pp 105-110 (2013)
Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uropo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6bde0925d3e4913fda28309c133d96e
http://europepmc.org/articles/PMC3635963
http://europepmc.org/articles/PMC3635963
Publikováno v:
Molecular Medicine. 16:381-388
The first feline model of human congenital erythropoietic porphyria (CEP) due to deficient uroporphyrinogen III synthase (URO-synthase) activity was identified by its characteristic clinical phenotype, and confirmed by biochemical and molecular genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bf13f6d83d859c6f59dbc160d46f37
https://doi.org/10.2119/molmed.2010.00038
https://doi.org/10.2119/molmed.2010.00038
Publikováno v:
Scandinavian Journal of Haematology. 37:404-410
Some parameters of haem synthesis were estimated in 60 uraemic patients (30 non-dialysed, 30 dialysed) and in 30 matched controls. Serum delta-aminolaevulinic acid and erythrocyte coproporphyrin and protoprophyrin were found significantly higher in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1d18dfb329157ad44ef5c3a7a97dc8
https://doi.org/10.1111/j.1600-0609.1986.tb02628.x
https://doi.org/10.1111/j.1600-0609.1986.tb02628.x
Autor:
P. Mandel, M. L. North, M. M. Tongio, J. Wertenschlag, S. Mayer, J. Abecassis, G. Hauptmann, C. Koehl
Publikováno v:
Tissue Antigens. 13:273-277
Forty-six members of a family known to have Porphyria were studied. As the disease is often latent clinically, erythrocyte uroporphyrinogen I synthetase activity was determined to classify the subjects as being healthy or carriers. HLA--A, B, C, Bf,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1013ba0faa9b8213adef2d93534fb721
https://doi.org/10.1111/j.1399-0039.1979.tb00795.x
https://doi.org/10.1111/j.1399-0039.1979.tb00795.x
Publikováno v:
Analytical Chemistry. 80:2606-2611
We report a new assay of human porphobilinogen deaminase (PBGD). Deficiency in this enzyme activity causes acute intermittent porphyria, the most common disorder of heme biosynthesis. The assay involves incubation of blood erythrocyte lysate with por
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ca2da177cb6737bc1e4a73dc9b39bf
https://doi.org/10.1021/ac702244x
https://doi.org/10.1021/ac702244x