Results 91 to 100 of about 4,129 (167)
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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, 2001 A 3-year-old Nigerian boy was treated with phenobarbitone after having a nonfebrile seizure. Two weeks later his urine was found to contain porphobilinogen, indicating that latent acute intermittent porphyria had been unmasked by phenobarbitone. The drug
R.M. Sykes, Sykes, R.M.
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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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, 2005 Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. It is an autosomal dominant condition with incomplete penetrance and is potentially life-threatening.
Herrick, Ariane L., McColl, Kenneth E L
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Molecular Pathology of Acute Intermittent Porphyria [PDF]
, 2009 Molecular Pathology of Acute Intermittent Porphyria Author: Matouš Hrdinka Acute intermittent porphyria (AIP) is autosomal dominant disorder caused by the partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic ...
Hrdinka, Matouš
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Effect of acute intermittent porphyria (AIP) on blood cell antioxidant enzyme gene expression.
, 2016 Effect of acute intermittent porphyria (AIP) on blood cell antioxidant enzyme gene expression.
Xavier Capó (3130953) +10 more
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Decreased red cell uroporphyrinogen I synthase activity in acute intermittent porphyria
, 1972 been distinguished biochemically from other genetic hepatic porphyrias by the observation of diminished hepatic uroporphyrinogen I synthetase activity and increased 5-aminolevulinic acid synthetase activity.
Harvey S. Marver +4 more
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Cardiac surgery in patients with acute intermittent porphyria
, 2012 Acute intermittent porphyria (AIP) is a disorder of the heme biosynthesis pathway of a specific inherited enzymatic defect. Many different environmental factors such as drugs, calorie restriction, infection etc., often play a key role in triggering a ...
Righi, Elena +3 more
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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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«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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