Results 101 to 110 of about 3,451 (171)
UEG Week 2025 Poster Presentations
United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley +1 more source
Post-dural puncture posterior reversible encephalopathy syndrome [PDF]
We report the case of a young patient with 36 weeks pregnancy, and an acute respiratory infection with severe bronchospasm, who developed an occipital headache and neck pain on the third day of inadvertent dural puncture during placement of combined ...
Hasan, Syeda Fauzia +2 more
core +1 more source
Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)
We report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse +2 more
doaj +1 more source
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]
Mette Christophersen Tollånes +2 more
core +1 more source
[Acute intermittent porphyria].
Acute intermittent porphyria is an inherited disease caused by genetic deficiency of enzyme prophobilinogen deaminase, which stopped heme synthesis. It is characterized by overproduction, accumulation and excretion of heme precursors. The authors present a young woman with clinical signs and symptoms of disease, treated successfully with heme-arginate,
R, Mijosević +3 more
openaire +3 more sources
Acute intermittent porphyria: Diagnosis per chance
Objectives: To report a case of acute intermittent porphyria (AIP) diagnosed by chance during routine investigations. Clinical Presentation and Intervention: A 21-year-old female presented with vague gastrointestinal symptoms.
Soundravally R +4 more
doaj
A case report of acute intermittent porphyria leading to severe disability
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder resulting from increased production of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG), due to deficiencies in the enzymatic activity of the ...
Jie Lin +3 more
doaj +1 more source
Cytosolic persistence of mouse brain CYP1A1 in chronic heme deficiency [PDF]
Previous work has demonstrated that the function of extrahepatic cytochrome P450 CYP1A1 is dependent on the availability of heme. CYP1A1 is involved in the activation of polyaromatic hydrocarbons.
Hoffmann, Francine +3 more
core
An analysis of 112 acute porphyric attacks in Cape Town, South Africa [PDF]
Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms. We describe our experience with 112 consecutive attacks observed
Hift, Richard J, Meissner, Peter N
core

