Results 91 to 100 of about 3,451 (171)

Chronic Elevation of Liver Enzymes in Acute Intermittent Porphyria Initially Misdiagnosed as Autoimmune Hepatitis

International Journal of Hepatology, 2011
Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men.
A. González Estrada, S. García-Morillo, L. Gómez Morales, P. Stiefel García-Junco   +3 more
doaj   +1 more source

Post- Partum Acute Intermittent Porphyria - A Case Report

The 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, Ashish Sethi, TC Kriplani, Neeraj Narang   +3 more
doaj  

Long-Term Follow-up of Erythrocyte Porphobilinogen Deaminase Activity in a Patient With Acute Intermittent Porphyria: The Relationship between the Enzyme Activity and Abdominal Pain Attacks [PDF]

, 2007
The relationship between the onset of abdominal pain attack and the urinary levels of δ-aminolevulinic acid, porphobilinogen, uroporphyrin, and the activity of erythrocyte porphobilinogen deaminase was studied on a monthly basis over a four-year period
1242, 1243, 1244, 1245, IMANISHI, Masafumi, TANAKA, Hiroaki, TANIDA, Eri, USUDA, Kan   +7 more
core   +1 more source

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H   +3 more
doaj  

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +1 more source

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

Journal 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, Karolina Michalska, Izabela Oleksak, Janusz Sauermann, Anna Jamroz-Wiśniewska, Konrad Rejdak   +5 more
doaj   +1 more source

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

, 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

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

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
doaj  

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