Results 1 to 10 of about 36,453 (301)

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

New England Journal of Medicine, 2019
BACKGROUND Induction of delta aminolevulinic acid synthase 1 (ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute intermittent porphyria, a rare inherited ...
Eliane Sardh, Pauline Harper, Manisha Balwani, Penelope E. Stein, David C. Rees, D. Montgomery Bissell, Robert J. Desnick, Charles Parker, John D. Phillips, Herbert L. Bonkovsky, Daphne Vassiliou, Craig Penz, Amy Chan-Daniels, Qiuling He, William Querbes, Kevin Fitzgerald, Jae Bum Kim, Pushkal Garg, Akshay Vaishnaw, Amy Simon, Karl E. Anderson   +20 more
semanticscholar   +4 more sources

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

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   +3 more sources

Acute Intermittent Porphyria: A Review and Rehabilitation Perspective. [PDF]

Cureus, 2023
Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its nonspecific symptoms. Neurovisceral signs and symptoms should alert physicians to consider
Valbuena Valecillos A, Yatham P, Alderman M, Shapiro L, Tiozzo E, Gober J.   +5 more
europepmc   +2 more sources

Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics [PDF]

International Journal of Molecular Sciences, 2022
Acute intermittent porphyria (AIP) is an inherited rare hepatic disorder due to mutations within the hydroxymethylbilane gene. AIP patients with active disease overproduce aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver which are ...
Àlex Gomez‐Gómez, Paula Aguilera, Klaus Langohr, Gregori Casals, Cristina Pavón, Josep Marcos, Jordi To‐Figueras, Óscar J. Pozo   +7 more
openalex   +2 more sources

Acute Intermittent Porphyria Attack Triggered by COVID-19 Infection. [PDF]

Cureus, 2023
A 45-year-old male patient who was diagnosed with acute intermittent porphyria (AIP) four years ago and had his last episode two years prior presented to our clinic with an AIP attack complicated with rhabdomyolysis triggered by coronavirus disease 2019 (
Bardak AE, Alada MO, Senkal N, Alibeyoğlu A, Köse M.   +4 more
europepmc   +2 more sources

Givosiran: a targeted treatment for acute intermittent porphyria. [PDF]

Hematology Am Soc Hematol Educ Program
The acute hepatic porphyrias (AHPs) are a family of rare genetic diseases associated with attacks of abdominal pain, vomiting, weakness, neuropathy, and other neurovisceral symptoms.
Dickey AK, Leaf RK.
europepmc   +2 more sources

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran. [PDF]

J Clin Med
Background/Objectives: Acute intermittent porphyria (AIP) is a metabolic disease characterised by neurovisceral crises with episodes of acute abdominal pain alongside life-altering, and often hidden, chronic symptoms.
Kubisch I, Wohmann N, Wissniowski TT, Stauch T, Oettel L, Diehl-Wiesenecker E, Somasundaram R, Stölzel U.   +7 more
europepmc   +2 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

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Therapeutics and Clinical Risk Management, 2019
Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4 1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt ...
Spiritos Z, Salvador S, Mosquera D, Wilder J   +3 more
doaj   +2 more sources