Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S D, Whatley"'
Publikováno v:
Clinical and Experimental Dermatology. 39:35-37
Summary X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d027067de8241182a0d18e73dc5fb6aa
https://doi.org/10.1111/ced.12202
https://doi.org/10.1111/ced.12202
Publikováno v:
Journal of Inherited Metabolic Disease. 28:779-785
Hereditary coproporphyria (HCP) is the least common of the three autosomal dominant acute porphyrias. To compare the sensitivity of metabolite measurements for the identification of asymptomatic HCP, we carried out a molecular and biochemical investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0050e8de57fbb9616520bac6018ff696
https://doi.org/10.1007/s10545-005-0092-z
https://doi.org/10.1007/s10545-005-0092-z
Autor:
A. G. Roberts, H. Puy, T. A. Dailey, R. R. Morgan, S. D. Whatley, H. A. Dailey, P. Martasek, Y. Nordmann, J.-C. Deybach, G. H. Elder
Publikováno v:
Human Molecular Genetics. 7:1921-1925
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16bf8013a8c048735d0ce5eb1222209
https://doi.org/10.1093/hmg/7.11.1921
https://doi.org/10.1093/hmg/7.11.1921
Publikováno v:
The British journal of dermatology. 162(3)
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 molecular diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::054da12d41620a892a94bfbc12f13fb1
https://pubmed.ncbi.nlm.nih.gov/20374603
https://pubmed.ncbi.nlm.nih.gov/20374603
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 55(2)
Erythropoietic protoporphyria (EPP) is a syndrome in which accumulation of protoporphyrin IX in erythroid cells, plasma, skin and liver leads to acute photosensitivity and, in about 2% of patients, liver disease. More than 95% of unrelated patients h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71b2f1c0f497cefc9330fd17211d02dd
https://pubmed.ncbi.nlm.nih.gov/19656460
https://pubmed.ncbi.nlm.nih.gov/19656460
Publikováno v:
Chinese medical journal. 114(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8dab3b1ae940777cf412b967f37fe807
https://pubmed.ncbi.nlm.nih.gov/11780470
https://pubmed.ncbi.nlm.nih.gov/11780470
Publikováno v:
Clinical chemistry. 44(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60f355eff4348fe87c3917350755a464
https://pubmed.ncbi.nlm.nih.gov/9799766
https://pubmed.ncbi.nlm.nih.gov/9799766