Results 141 to 150 of about 36,453 (301)

Self-efficacy and self-management strategies in acute intermittent porphyria

open access: yesBMC Health Services Research, 2019
BackgroundAcute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene.
Marte H. Hammersland   +3 more
semanticscholar   +1 more source

Post- Partum Acute Intermittent Porphyria - A Case Report

open access: yesThe Indian Anaesthetists' Forum, 2010
Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar   +3 more
doaj  

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria [PDF]

open access: bronze, 2018
Brenden Chen   +7 more
openalex   +1 more source

Porphyria in pregnancy with exacerbation after delivery due to COVID-19

open access: yesJournal of Education, Health and Sport
We present a case of acute intermittent porphyria (AIP) diagnosed in a pregnant woman with subsequent exacerbation after delivery due to COVID-19 infection.
Aleksandra Jartych   +5 more
doaj   +1 more source

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria [PDF]

open access: bronze, 2015
Nicolas Pallet   +12 more
openalex   +1 more source

Targeting the Nrf2-Heme Oxygenase-1 Axis after Intracerebral Hemorrhage. [PDF]

open access: yes, 2017
BACKGROUND: Injury to cells adjacent to an intracerebral hemorrhage (ICH) is likely mediated at least in part by toxins released from the hematoma that initiate complex and interacting injury cascades.
Chen-Roetling, Jing, Regan, Raymond F.
core   +1 more source

Haemoperfusion in acute intermittent porphyria. [PDF]

open access: bronze, 1984
V Kordač   +3 more
openalex   +1 more source

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

open access: yes, 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   +2 more
core   +1 more source

An update of clinical management of acute intermittent porphyria

open access: yesThe 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
doaj  

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