Výsledky vyhledávání - "Manfred Doss"

Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies

Autor: Manfred Doss

Publikováno v: Clinical Genetics. 35:146-151

A coexistent dual deficiency of porphobilinogen deaminase (PBG-D; EC 4.3.1.8) and uroporphyrinogen decarboxylase (EC 4.1.1.37) in erythrocytes was recognized in five individuals, four males and one female. Clinically, the female and one male were dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc36a7047dabe6d2e8dac660012efd2e
https://doi.org/10.1111/j.1399-0004.1989.tb02920.x

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Porphyrin studies in TCDD-exposed workers

Autor: Axel Muttray, Johannes Konietzko, Herbert Josef Zimmermann-Hölz, Manfred Doss, Annette Kopp-Schneider, Hans Beck, Gertraud Reill-Konietzko, Detlev Jung, Lutz Edler

Publikováno v: Archives of Toxicology. 68:595-598

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) has been shown to inhibit uroporphyrinogen decarboxylase activity resulting in chronic hepatic porphyria. From a cross-sectional study of 170 workers in chemical industry 68 showed elevated coproporphyrin le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1223594d7c03fcd96535c303ca8a6e0
https://doi.org/10.1007/s002040050120

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Secondary coproporphyrinuria in a patient with the full clinical picture of a hereditary acute hepatic porphyria

Autor: Peter Hitzenberger, Wolfgang Grisold, Stefan Oberndorfer, Johannes Seidel, Manfred Doss, Sabine Urbanits, Wolfgang Gruber

Publikováno v: Journal of Neurology. 249:1325-1326

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b59fb348b29897671f0c8adacdfe6c
https://doi.org/10.1007/s00415-002-0797-y

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Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication

Autor: Sixel-Dietrich F, Manfred Doss

Publikováno v: Archives of Dermatological Research. 278:13-16

Porphyria cutanea tarda (PCT) was diagnosed in 27 women aged 23-48 years (mean, 35 years) who had been under oral-hormonal-contraceptive medication for 1-18 years, in 3 women under substitutional estrogen treatment in the menopause, and in 2 men aged

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd2e0b104368d97fc938a85baea0e6e
https://doi.org/10.1007/bf00412489

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Hereditary porphobilinogen synthase deficiency in human associated with acute hepatic porphyria

Autor: Andrea Brandt, Manfred Doss

Publikováno v: Human Genetics. 58:194-197

Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity approximately 2% of the physiological level) has been characterized in erythrocytes after DEAE cellulose chromatography,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ac1801a5fc7214a6cbba8a799d0c37
https://doi.org/10.1007/bf00278710

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