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pro vyhledávání: '"Nili Schoenfeld"'
Summary: Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6fcb74923a329d46f106d8d6076cc59
http://doc.rero.ch/record/320542/files/10545_2008_Article_924.pdf
http://doc.rero.ch/record/320542/files/10545_2008_Article_924.pdf
Autor:
Hervé Puy, Rivka Mamet, Nili Schoenfeld, Frédéric Austerlitz, L. Horev, Xiaoye Schneider-Yin, Elisabeth I. Minder, Stefan Neuenschwander, Alessandra Baumer
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 24:1349-1353
Background Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by the deficiency of ferrochelatase (FECH) in the haem biosynthetic pathway. In the majority of families, EPP is transmitted as a pseudodominant trait. Autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4da07fb02ae1fdc004150ecdca0af3e
https://doi.org/10.1111/j.1468-3083.2010.03640.x
https://doi.org/10.1111/j.1468-3083.2010.03640.x
Autor:
Rivka Mamet, Vladimir Saudek, Elisabeth I. Minder, Pavel Martásek, Xiaoye Schneider-Yin, Nili Schoenfeld, Dana Ulbrichova
Publikováno v:
Blood Cells, Molecules, and Diseases. 42:167-173
Mutations in the hydroxymethylbilane synthase (HMBS) gene are responsible for the inherited disorder of acute intermittent porphyria (AIP). AIP is diagnosed on the basis of characteristic clinical symptoms, elevated levels of urinary porphyrin precur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b33cc153445d22c9df9d8e6dc597e0e4
https://doi.org/10.1016/j.bcmd.2008.11.001
https://doi.org/10.1016/j.bcmd.2008.11.001
Autor:
Tally Lerman-Sagie, Dorit L. Lev, Vered Hoffer, Nili Schoenfeld, Nathan Watemberg, Mia Levite, Yonathan Ganor, Barak Tziperman, Ben-Zion Garty
Publikováno v:
Journal of Child Neurology. 22:99-105
A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first deca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560050e6f477c23047086426b1238fdc
https://doi.org/10.1177/0883073807299962
https://doi.org/10.1177/0883073807299962
Publikováno v:
Blood Cells, Molecules, and Diseases. 30:298-301
Mutations in the human ferrochelatase gene ( FECH ) are the primary cause of the inborn disorder erythropoietic protoporphyria (EPP). While the majority of the EPP patients exhibit only photosensitivity, a small percentage of patients (∼2%) develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82327fc9274b86de7be4a61f32e88a38
https://doi.org/10.1016/s1079-9796(03)00040-8
https://doi.org/10.1016/s1079-9796(03)00040-8
Publikováno v:
Clinical Chemistry. 47:1710-1713
Hereditary neuroporphyrias [aminolevulinate dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, or variegate porphyria (VP)], and lead poisoning (LP), which is thought to be an acquired form of neuroporphyria, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2758be8a5119ec9bdcb402d1045dd984
https://doi.org/10.1093/clinchem/47.9.1710
https://doi.org/10.1093/clinchem/47.9.1710
Publikováno v:
New England Journal of Medicine. 339:827-830
Stage A 43-year-old man was hospitalized because of a three-day history of epigastric pain, pain in the right upper quadrant, and constipation. The pain was intermittent and not associated with nausea, vomiting, fever, or eating. Stage The patient ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dff2b9dbea48548975c7cd4554c84468
https://doi.org/10.1056/nejm199809173391208
https://doi.org/10.1056/nejm199809173391208
Publikováno v:
Alcohol. 13:59-63
Urinary porphyrins and their metabolites aminolevulinic acid (ALA) and porphobilinogen (PBG) were determined in 15 normal volunteers and in 45 alcoholics, subdivided into three groups according to their liver function tests and histology: alcoholics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ac847e7bb32a004994eaf5cbee7954
https://doi.org/10.1016/0741-8329(95)02013-6
https://doi.org/10.1016/0741-8329(95)02013-6
Publikováno v:
Journal of Microbiological Methods. 19:173-178
A rapid HPLC method for determining protoporphyrin is employed in the procedure described for measuring coproporphyrinogen III oxidase (CO) activity in bacteria. The activity was found to be linear with protein up to 300 μg/assay and with incubation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3318b2760db29d4fafbb79a6d352b141
https://doi.org/10.1016/0167-7012(94)90067-1
https://doi.org/10.1016/0167-7012(94)90067-1