Zobrazeno 1 - 10 of 64 pro vyhledávání: '"Sharon D. Whatley"'
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Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation
Autor: Celia Badenas, Sharon D. Whatley, Jordi To-Figueras, Paula Aguilera
Publikováno v: British Journal of Dermatology. 175:1346-1350
Deficiency of uroporphyrinogen III synthase (UROS) causes congenital erythropoietic porphyria (CEP). The disease, originating from the inheritance of mutations within the UROS gene, presents a recessive form of transmission. In a few patients, a late
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3eafec9d0b6a22edad49f97c77ac7b57
https://doi.org/10.1111/bjd.14675
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5
Best practice guidelines on first-line laboratory testing for porphyria
Autor: Joanne T Marsden, Paul Reed, Michael Norman Badminton, M. Felicity Stewart, Timothy Degg, Jacqueline Woolf, Sharon D. Whatley, Nadia Brazil
Publikováno v: Annals of clinical biochemistry. 54(2)
The porphyrias are disorders of haem biosynthesis which present with acute neurovisceral attacks or disorders of sun-exposed skin. Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, centr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5da3c0327d67017e606dab1a2da288a1
https://pubmed.ncbi.nlm.nih.gov/27555665
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6
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
Autor: H. de Verneuil, Jacqueline Woolf, Michael Norman Badminton, Sharon D. Whatley, Jean Charles Deybach, R. P. Katugampola, S. Hanneken, Nicola G. Mason, Hervé Puy, C. Ged, Xiaoye Schneider-Yin, Alexander Vincent Anstey, Andrew Yule Finlay, E. Minder
Publikováno v: British Journal of Dermatology. 167:888-900
Background Congenital erythropoietic porphyria (CEP) is an autosomal recessive photomutilating porphyria with onset usually in childhood, where haematological complications determine prognosis. Due to its extreme rarity and clinical heterogeneity, ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca32e10d897cf215a83a9b531135eadf
https://doi.org/10.1111/j.1365-2133.2012.11154.x
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7
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
Autor: Hervé Puy, Andrew Yule Finlay, S. Hanneken, H. de Verneuil, Jean Charles Deybach, Nicola G. Mason, Jacqueline Woolf, Sharon D. Whatley, C. Ged, Alexander Vincent Anstey, R. P. Katugampola, Michael Norman Badminton, Xiaoye Schneider-Yin, E. Minder
Publikováno v: British Journal of Dermatology. 167:901-913
Background: Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to vi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32fcbd9a9415b545a374d2957e62c468
https://doi.org/10.1111/j.1365-2133.2012.11160.x
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10
Molecular epidemiology of erythropoietic protoporphyria in the U.K
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
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