Results 151 to 160 of about 36,453 (301)

Low availability of haematin (hemin) in Pakistan

open access: yesJournal of the Pakistan Medical Association
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

open access: yes
United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

open access: yesBrain Disorders
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

open access: bronze, 2015
Keitaro Kojima   +5 more
openalex   +2 more sources

Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]

open access: yes, 2010
Mette Christophersen Tollånes   +2 more
core   +1 more source

Post-dural puncture posterior reversible encephalopathy syndrome [PDF]

open access: yes, 2011
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].

open access: yesSrpski arhiv za celokupno lekarstvo, 1995
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

Poster Sessions

open access: yes
HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Acute intermittent porphyria: Diagnosis per chance

open access: yesIndian Journal of Pathology and Microbiology, 2008
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  

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