Zobrazeno 1 - 10
of 195
pro vyhledávání: '"George H. Elder"'
Autor:
George H. Elder, Pauline Harper, Jean-Charles Deybach, Sverre Sandberg, Michael Norman Badminton
Publikováno v:
Journal of Inherited Metabolic Disease. 36:849-857
Retrospective estimates of the prevalence of porphyrias have been reported but there has been no large scale prospective study of their incidence. The European Porphyria Network collected information prospectively over a 3 year period about the numbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359224a52dcfbc5bd9cad28fe43fe219
https://doi.org/10.1007/s10545-012-9544-4
https://doi.org/10.1007/s10545-012-9544-4
Autor:
Clifford M. Lawrence, Gillian M. Murphy, Pamela Gover, Michael Norman Badminton, Gillian S. Masters, George H. Elder, Ghulam J. Mufti, Sharon D. Whatley, Robert Sarkany, Sally H. Ibbotson
Publikováno v:
Journal of Investigative Dermatology. 131(5):1172-1175
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0bb4f0e7cb3d18a418d6e337001ae0
Autor:
Andrew G. Smith, George H Elder
Publikováno v:
Chemical Research in Toxicology. 23:712-723
Many toxicological disorders, in common with numerous human diseases, are probably the consequence of multigene interactions with a variety of chemical and physiological factors. The importance of genetic factors may not be obvious initially from ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16a2ead537c6d56c696dcacc85d4368
https://doi.org/10.1021/tx900298k
https://doi.org/10.1021/tx900298k
Autor:
George H. Elder, Michael Norman Badminton, S.A. Holme, Alexander Vincent Anstey, Nicola G. Mason, Sharon D. Whatley
Publikováno v:
British Journal of Dermatology. 162:642-646
Background: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65d90cb786c3b61d22b3027ee74aca2f
https://doi.org/10.1111/j.1365-2133.2010.09631.x
https://doi.org/10.1111/j.1365-2133.2010.09631.x
Autor:
Jean-Charles Deybach, Carole Beaumont, Bernard Grandchamp, P.N. Meissner, Richard J Hift, Hervé Puy, Laurent Gouya, Michael Norman Badminton, Alexander Vincent Anstey, Michelle Parker, Yun Ma, S. Alexander Holme, Joanne T Marsden, Sharon D. Whatley, Anne V. Corrigall, Sarah Ducamp, George H. Elder, Giorgina Mieli-Vergani
Publikováno v:
The American Journal of Human Genetics. 83:408-414
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f458a5991b904396551c80ebac8e53a
https://doi.org/10.1016/j.ajhg.2008.08.003
https://doi.org/10.1016/j.ajhg.2008.08.003
Autor:
Alexander Vincent Anstey, Nicola G. Mason, George H. Elder, Michael Norman Badminton, S. Alexander Holme, Sharon D. Whatley
Publikováno v:
Journal of Investigative Dermatology. 127:2790-2794
Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by partial deficiency of ferrochelatase (FECH), accumulation of protoporphyrin IX in erythrocytes, skin, and liver, and acute photosensitivity. Genetic counseling i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88243f391b531cdee7ee741447d9c954
https://doi.org/10.1038/sj.jid.5700924
https://doi.org/10.1038/sj.jid.5700924
Autor:
Andrew Yule Finlay, Stephen Alexander Holme, George H. Elder, Michael Norman Badminton, Alexander Vincent Anstey
Publikováno v:
British Journal of Dermatology. 155:574-581
Background Erythropoietic protoporphyria (EPP) is a rare inherited photodermatosis that causes lifelong painful photosensitivity. Neither its full clinical spectrum nor its impact on quality of life (QoL) has been investigated in a large cohort of pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::318dc92f817983ef1ea1b1d595143392
https://doi.org/10.1111/j.1365-2133.2006.07472.x
https://doi.org/10.1111/j.1365-2133.2006.07472.x
Publikováno v:
British Journal of Dermatology. 110:613-617
SUMMARY A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a5b739f3a936c3bed7f74b22790f81
https://doi.org/10.1111/j.1365-2133.1984.tb04687.x
https://doi.org/10.1111/j.1365-2133.1984.tb04687.x
Publikováno v:
Journal of Inherited Metabolic Disease. 28:277-286
Partial deficiency of enzymes in the haem synthetic pathway gives rise to a group of seven inherited metabolic disorders, the porphyrias. Each deficiency is associated with a characteristic increase in haem precursors that correlates with the symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c10a0cf6b47c768e37a18bde188547
https://doi.org/10.1007/s10545-005-8050-3
https://doi.org/10.1007/s10545-005-8050-3
Autor:
Nadia Gorman, Heidi W. Trask, William J. Bement, Juliana G. Szakacs, George H. Elder, Dominic Balestra, Nicholas J. Jacobs, Judith M. Jacobs, Jacqueline F. Sinclair, Glenn S. Gerhard, Peter R. Sinclair Ph.D.
Publikováno v:
Hepatology. 40:942-950
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fe1b11d11fff380103a5775f9341f6a
https://doi.org/10.1002/hep.1840400425
https://doi.org/10.1002/hep.1840400425