Results 111 to 120 of about 8,276 (254)

Low availability of haematin (hemin) in Pakistan

Journal 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, Muhammed Ifham Mohamed Imtiyas, Abdul Raheem Rizvie   +2 more
doaj   +1 more source

Is there an association of giardiasis with beta-thalassemia minor? [PDF]

, 2010
Beta–thalassemia minor is a symptomless carrier state of a hemoglobinopathy which predisposes to bacterial infections. We report three cases presenting with giardiasis, a parasitic infection of gastrointestinal tract caused by Giardia lamblia.
Jafri, Wasim, Shaikh, Hizbullah, Yakoob, Javed   +2 more
core   +1 more source

Anesthetic management of vaginal tear repair during early puerperium in a patient with acute intermittent porphyria [PDF]

, 2014
Mahmood Ghazanwy, Kanta Meena, Stalin Vinayagam   +2 more
openalex   +1 more source

Acute Intermittent Porphyria [PDF]

Gonzalez-Mosquera LF, Sonthalia S.
europepmc   +1 more source

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

Brain 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, Dominique Dive, François Charles Wang   +2 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

[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, N, Suvajdzić, G, Janković, M, Colović   +3 more
openaire   +3 more sources

Cytosolic persistence of mouse brain CYP1A1 in chronic heme deficiency [PDF]

, 2017
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, Lindberg, Raija L.P., Meyer, Ralf P., Meyer, Urs A.   +3 more
core  

A case of difficult hemodialysis induction in a patient with acute intermittent porphyria

, 2015
Keitaro Kojima, Masashi Mizuno, Shinichi Hattori, Kenichi Minoshima, M Yamaha, Masanobu Horie   +5 more
openalex   +2 more sources