Results 1 to 10 of about 3,597 (170)

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

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  

Porphyria Presenting as Diffuse Encephalopathy

Pediatric Neurology Briefs, 2005
An 18-year-old female presenting with seizures, myalgias, abdominal pain, headache and vomiting had multiple large contrast-enhancing white matter lesions on MRI and was diagnosed with acute intermittent porphyria (AIP), in a report from the Department ...
J Gordon Millichap
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  

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

Seizures with abdominal pain—a case of porphyrias complicated with status epilepticus

Journal of the Pakistan Medical Association
Acute intermittent porphyria (AIP) is the most common type of porphyria, caused due to the deficiency of HMBS enzyme in the heme synthesis pathway. One of its infrequent and clinically challenging complications is status epilepticus.
Izza Rehan, Fatima Aslam, Iqra Manzoor
doaj   +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

Interfering with acute intermittent porphyria [PDF]

Nature Reviews Gastroenterology & Hepatology, 2020
openaire   +2 more sources