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Published in 2017 at "European Journal of Neurology"
DOI: 10.1111/ene.13347
Abstract: Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non‐acute porphyrias considering the occurrence of life‐threatening neurovisceral attacks, presenting…
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Keywords:
neurology;
acute;
acute porphyria;
cerebral vasospasm ... See more keywords
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Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-241580
Abstract: Acute porphyrias are rarely reported in Southeast Asia. They may be underdiagnosed due to their clinical mimicry and lack of awareness among physicians. There is a common cognitive bias to gravitate towards common conditions. In…
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Keywords:
presentation acute;
acute;
acute porphyria;
unexpected presentation ... See more keywords
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Published in 2021 at "Drugs of today"
DOI: 10.1358/dot.2021.57.1.3230207
Abstract: Porphyrias are a family of rare diseases chiefly due to inborn errors of heme biosynthesis. The porphyrias are generally characterized either by the main site of overproduction of heme precursors (hepatic or erythropoietic) or the…
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Keywords:
treat acute;
givosiran treat;
acute porphyria;
treatment ... See more keywords