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- W3206671271 abstract "Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA‐dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain‐Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology." @default.
- W3206671271 created "2021-10-25" @default.
- W3206671271 creator A5006314203 @default.
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- W3206671271 creator A5065638265 @default.
- W3206671271 creator A5086724510 @default.
- W3206671271 date "2021-10-17" @default.
- W3206671271 modified "2023-10-10" @default.
- W3206671271 title "Acute porphyrias – A neurological perspective" @default.
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