Results 51 to 60 of about 3,479 (173)

Cardiac calcification in acute intermittent porphyria

Annals of Pediatric Cardiology, 2011
Aetiology of pericardial calcifications can be multifactorial. Tuberculosis has been reported as the most common cause. Other known causes include uraemia, asbestosis, post-traumatic or postoperative.
Tanmoy Ghatak, Afzal Azim, Arvind K Baronia, Banani Poddar   +3 more
doaj   +1 more source

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 more
wiley   +1 more source

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang   +6 more
doaj   +1 more source

Mismatched transfusion of 8 AB0-incompatible units of packed red blood cells in a patient with acute intermittent porphyria

Saudi Journal of Anaesthesia, 2011
We report on a patient with acute intermittent porphyria, who received 8 AB0 incompatible units of packed red blood cells in an emergency situation. She never showed any signs of severe intravascular haemolysis.
Burkard Rudlof, Burkhard Just, Robert Deitenbeck, Thomas Ehmann   +3 more
doaj   +1 more source

Folate Deficiency, Porphyria, and Seizures

Pediatric Neurology Briefs, 1993
A 12 year old, learning-disabled boy with epilepsy was admitted to the University of Connecticut Health Center, Farmington, CT because of symptomatic folate deficiency and newly diagnosed acute intermittent porphyria.
J Gordon Millichap
doaj   +1 more source

Desensitization in patients with hypersensitivity to haem arginate: A case report

World Allergy Organization Journal, 2019
Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman, Drixie Leal, Eugenio Matijasevic, Elizabeth García   +3 more
doaj   +1 more source

Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

Revista Brasileira de Terapia Intensiva, 2008
Porfiria aguda intermitente é patologia incomum, com conseqüências potencialmente graves se não reconhecida precocemente. Dentre as possíveis causas de indução de crises de porfiria, a redução da ingestão calórica é descrita na literatura.
Daniela von Ah Lopes, Marcelo Araújo do Valle, Jéfferson Taguti, Regina Celli Thomé Castro Taguti, Gustavo Navarro Betônico, Fabiana Clemente Medeiros   +5 more
doaj   +1 more source

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