Results 61 to 70 of about 3,148 (150)
UEG Week 2025 Poster Presentations
United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley +1 more source
An update of clinical management of acute intermittent porphyria
The Application of Clinical Genetics, 2015 Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St ...
Pischik E, Kauppinen R
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Low availability of haematin (hemin) in Pakistan
Journal of the Pakistan Medical AssociationMadam, 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
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Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)
Brain DisordersWe 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
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[Acute intermittent porphyria].
Srpski 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
Acute intermittent porphyria: Diagnosis per chance
Indian 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
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A case report of acute intermittent porphyria leading to severe disability
Frontiers in NeurologyAcute 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
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«PURPLE MYSTERY» OR SIXTEEN-YEAR-OLD GIRL`S ACUTE INTERMITTENT PORPHYRIA
Мать и дитя в Кузбассе, 2019 The Patient G., 16 years old with polymorphic nonspecific complaints, since 2011. Objective – to analyse rare clinical case of the manifestation of acute intermittent porphyria (AIP) of sixteen-year-old girl, to trace the sequence of increase of ...
Елена Алексеевна Беседина +6 more
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