Results 1 to 10 of about 8,257 (236)

Feigning Acute Intermittent Porphyria [PDF]

Case Reports in Psychiatry, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning
Rania Elkhatib, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person   +5 more
doaj   +5 more sources

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria [PDF]

Case Reports in Transplantation
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides, Joachim Andrassy, Markus Guba, Manfred Stangl, Olivia Bronisch, Maria K. Beykirch   +5 more
doaj   +2 more sources

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo [PDF]

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 more
doaj   +3 more sources

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   +3 more sources

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

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   +2 more sources

A case report of acute intermittent porphyria leading to severe disability [PDF]

Frontiers in Neurology, 2023
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder resulting from increased production of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG), due to deficiencies in the enzymatic activity of the ...
Jie Lin, Jinzhi Liu, Aihua Wang, Zhihua Si   +3 more
doaj   +2 more sources

Mortality in Pedigrees with Acute Intermittent Porphyria [PDF]

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +2 more sources

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

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   +2 more sources

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria. [PDF]

Life (Basel), 2023
Di Pierro E, Perrone M, Franco M, Granata F, Duca L, Lattuada D, De Luca G, Graziadei G.   +7 more
europepmc   +3 more sources

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria [PDF]

New England Journal of Medicine, 2019
Eliane Sardh, Pauline Harper, Manisha Balwani   +2 more
exaly   +2 more sources