Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040333690> ?p ?o ?g. }
- W2040333690 endingPage "851" @default.
- W2040333690 startingPage "851" @default.
- W2040333690 abstract "Acute intermittent porphyria is an inborn error of metabolism characterized by the excretion of excess porphyrin precursors (porphobilinogen and usually delta-aminolevulinic acid) in the urine, and by sporadic attacks of neurologic dysfunction. The disease is complex, involving variable patterns of autonomic and peripheral neuropathy as well as the central nervous system manifestations. There may be alterations in carbohydrate, lipid, water, and electrolyte metabolism in addition to clinically inapparent endocrine abnormalities. The fundamental defect is thought to be a 50% decrease of uroporphyrinogen I synthetase, the third enzyme of the heme biosynthetic pathway. This is associated with a marked increase of hepatic delta-aminolevulinic acid synthetase, the first and rate controlling enzyme of the pathway. The measurement of uroporphyrinogen I synthetase in erythrocytes now provides an enzyme diagnostic test for the disease. Two therapeutic approaches that may prove to reverse the fundamental disease process, at least in some patients, involve [1] a high carbohydrate intake, and [2] intravenous administration of hematin. The latter, only recently introduced, is now being investigated." @default.
- W2040333690 created "2016-06-24" @default.
- W2040333690 creator A5048131653 @default.
- W2040333690 date "1975-12-01" @default.
- W2040333690 modified "2023-10-13" @default.
- W2040333690 title "Acute Intermittent Porphyria: Clinical and Selected Research Aspects" @default.
- W2040333690 cites W105127645 @default.
- W2040333690 cites W1506373096 @default.
- W2040333690 cites W1516389760 @default.
- W2040333690 cites W1530868543 @default.
- W2040333690 cites W1554582622 @default.
- W2040333690 cites W1562406721 @default.
- W2040333690 cites W1564577776 @default.
- W2040333690 cites W1604536885 @default.
- W2040333690 cites W161314250 @default.
- W2040333690 cites W1660061067 @default.
- W2040333690 cites W1665143716 @default.
- W2040333690 cites W1878915947 @default.
- W2040333690 cites W1964875362 @default.
- W2040333690 cites W1967411579 @default.
- W2040333690 cites W1969571304 @default.
- W2040333690 cites W1972178461 @default.
- W2040333690 cites W1974061246 @default.
- W2040333690 cites W1975286778 @default.
- W2040333690 cites W1976783301 @default.
- W2040333690 cites W1979754731 @default.
- W2040333690 cites W1981608290 @default.
- W2040333690 cites W1985009272 @default.
- W2040333690 cites W1985069507 @default.
- W2040333690 cites W1989643840 @default.
- W2040333690 cites W1991594076 @default.
- W2040333690 cites W1992923092 @default.
- W2040333690 cites W1993315095 @default.
- W2040333690 cites W1993336816 @default.
- W2040333690 cites W1995009573 @default.
- W2040333690 cites W2001669192 @default.
- W2040333690 cites W2004877539 @default.
- W2040333690 cites W2005562106 @default.
- W2040333690 cites W2006157742 @default.
- W2040333690 cites W2008338524 @default.
- W2040333690 cites W2008612753 @default.
- W2040333690 cites W2008957535 @default.
- W2040333690 cites W2011939405 @default.
- W2040333690 cites W2018688544 @default.
- W2040333690 cites W2018955591 @default.
- W2040333690 cites W2020307777 @default.
- W2040333690 cites W2021444455 @default.
- W2040333690 cites W2023490193 @default.
- W2040333690 cites W2024727512 @default.
- W2040333690 cites W2025199003 @default.
- W2040333690 cites W2025357677 @default.
- W2040333690 cites W2026148018 @default.
- W2040333690 cites W2028813918 @default.
- W2040333690 cites W2029345852 @default.
- W2040333690 cites W2029448027 @default.
- W2040333690 cites W203009548 @default.
- W2040333690 cites W2032164772 @default.
- W2040333690 cites W2034729011 @default.
- W2040333690 cites W2034877115 @default.
- W2040333690 cites W2043400988 @default.
- W2040333690 cites W2044317886 @default.
- W2040333690 cites W2045340651 @default.
- W2040333690 cites W2057316316 @default.
- W2040333690 cites W2058027883 @default.
- W2040333690 cites W2058682343 @default.
- W2040333690 cites W2059366048 @default.
- W2040333690 cites W2062939008 @default.
- W2040333690 cites W2066182761 @default.
- W2040333690 cites W2071038002 @default.
- W2040333690 cites W2071449591 @default.
- W2040333690 cites W2073052904 @default.
- W2040333690 cites W2073805658 @default.
- W2040333690 cites W2079733896 @default.
- W2040333690 cites W2080343651 @default.
- W2040333690 cites W2088495714 @default.
- W2040333690 cites W2091807309 @default.
- W2040333690 cites W2093872826 @default.
- W2040333690 cites W2094064316 @default.
- W2040333690 cites W2113870037 @default.
- W2040333690 cites W2115301124 @default.
- W2040333690 cites W2118155272 @default.
- W2040333690 cites W2128260866 @default.
- W2040333690 cites W2135372680 @default.
- W2040333690 cites W2151393596 @default.
- W2040333690 cites W2165604882 @default.
- W2040333690 cites W2256166285 @default.
- W2040333690 cites W2268676131 @default.
- W2040333690 cites W2310089246 @default.
- W2040333690 cites W2318113561 @default.
- W2040333690 cites W2320349909 @default.
- W2040333690 cites W2320500251 @default.
- W2040333690 cites W2337209710 @default.
- W2040333690 cites W2397884554 @default.
- W2040333690 cites W2404676695 @default.
- W2040333690 cites W2406769910 @default.
- W2040333690 cites W2407380426 @default.
- W2040333690 cites W2409947082 @default.
- W2040333690 cites W2411966742 @default.