Results 31 to 40 of about 4,129 (167)
Acute porphyrias – A neurological perspective
Brain and Behavior, 2021 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
Lea M. Gerischer +5 more
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Anesthesia for hemicolectomy in a known porphyric with cecal malignancy
Saudi Journal of Anaesthesia, 2015 Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and ...
B K Naithani +3 more
doaj +1 more source
Acute Intermittent Porphyria: Diagnostic Conundrums [PDF]
, 1994 Summary: Acute intermittent porphyria is a genetic disorder of haem biosynthesis caused by defects in the gene encoding hydroxymethylbilane synthase on the long arm of chromosome 11.
T. J. Peters +9 more
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Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway [PDF]
, 2018 Background: Lifestyle factors, including a low intake of carbohydrates, dieting, alcohol consumption, cigarette smoking and stress are some of the possible triggers of attacks in acute intermittent porphyria (AIP).
Storjord, Elin +6 more
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Neurological Complications of Acute Intermittent Porphyria
, 2012 Background: Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, the clinical manifestations of which are incompletely understood.
郭弘周;黃錦章;朱俊哲;李銘仁;莊雯莉;吳東霖;甯孝真;劉智仰 +1 more
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Acute intermittent porphyria (AIP) in a patient with celiac disease
Neurological Research and Practice, 2020 We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency.
Sebastian Nunnemann +3 more
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A Diagnostic Pitfall of Primary Aldosteronism Presenting as Recurrent Quadriparesis: A Case Report
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT Quadriparesis refers to weakness affecting all four limbs. While most cases are neurogenic in origin, stemming from central or peripheral nervous system pathology, non‐neurogenic causes are less common and often under‐recognized. These include systemic or metabolic conditions that secondarily impair neuromuscular function.
Javed Shakir +7 more
wiley +1 more source
, 2021 Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases.
Tokgun, Onur +4 more
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Acute intermittent porphyria. Inflammation, diet and biomarkers in acute intermittent porphyria [PDF]
, 2021 Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited metabolic disease with lowered function of the enzyme hydroxymethylbilan synthase due to mutation in this gene of the heme synthesis.
Storjord, Elin
core +1 more source
Porphyric encephalopathy in a 15-year-old girl: A case report
SAGE Open Medical Case ReportsA 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati +6 more
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