Results 71 to 80 of about 3,451 (171)

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 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

Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature [PDF]

, 2010
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain.
Brynhildur Tinna Birgisdóttir, Brynjar Viðarsson, Hilmir Ásgeirsson, Jón Jóhannes Jónsson, Steinunn Arnardóttir   +4 more
core  

Practical Recommendations for Indians on Sunscreen Use—A Modified Delphi Consensus by Indian Sunscreen Forum (PRISM‐ISF)

Journal of Cosmetic Dermatology, Volume 24, Issue 9, September 2025.
ABSTRACT Background Ultraviolet (UV) radiation is a major contributor to photoaging, pigmentary disorders, and photocarcinogenesis. While sunscreens remain central to photoprotection, clinicians in India find it challenging to choose a sunscreen due to the wide variability in skin types, dermatologic conditions, climates, and formulation preferences ...
Malavika Kohli, C. R. Srinivas, Abir Saraswat, Anil Ganjoo, Atul Kathed, Geeta Patel, Indrashis Podder, D. S. Krupashankar, Maleeka Sachdev, Maya Vedamurthy, Rajat Kandhari, Rajetha Damisetty, Renita Rajan, Sanjeev Aurangabadkar, Dhiraj Dhoot, Ashwin Balasubramanian, Saiprasad Patil, Hanmant Barkate   +17 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

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

Dental Treatment of the Patient with Porphyria [PDF]

, 2005
Porfirije su skupina nasljednih bolesti uzrokovanih defektnim enzimima na biosintetskom putu hema. Ovisno o defektu pojedinog enzima razlikujemo i razne vrste porfirija.
Berislav Perić, Niko Krakar
core   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, Volume 27, Issue 4, Page 530-549, August 2025.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +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