Results 151 to 160 of about 36,453 (301)
Low availability of haematin (hemin) in Pakistan
Madam, Acute Intermittent Porphyria (AIP) is an autosomal dominant disorder that results from a defect in the enzyme named porphobilinogen deaminase.1 It is symptomatic porphyria, involving the accumulation of porphyrins and porphyrin precursors due to ...
Fatima Ahsan +2 more
doaj +1 more source
UEG Week 2025 Poster Presentations
United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley +1 more source
Neuropsychiatric Manifestations of Acute Intermittent Porphyria – A Diagnostic Dilemma
Aratrika Sen +2 more
openalex +2 more sources
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
A case of difficult hemodialysis induction in a patient with acute intermittent porphyria
Keitaro Kojima +5 more
openalex +2 more sources
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
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].
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

