Results 81 to 90 of about 16,235 (263)

General anaesthesia in acute intermittent porphyria [PDF]

, 2014
Acute intermittent porphyria (AIP) is caused by the deficiency of porphobilinogen deaminase, a haem synthesis enzyme, giving rise to crises characterized by abdominal pain, tachyarrythmias and psychiatric features.
Abela, Glenn Paul, Calleja, Paul
core  

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

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

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +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

Feigning Acute Intermittent Porphyria

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   +1 more source

Progressive Supranuclear Palsy and Corticobasal Degeneration: Pathophysiology and Treatment Options [PDF]

, 2016
There are currently no disease-modifying treatments for progressive supranuclear palsy (PSP) or corticobasal degeneration (CBD), and no approved pharmacological or therapeutic treatments that are effective in controlling their symptoms.
Andrew J. Lees, Huw R. Morris, Jonathan D. Rohrer, Ruth Lamb   +3 more
core   +1 more source

Targeting the Nrf2-Heme Oxygenase-1 Axis after Intracerebral Hemorrhage. [PDF]

, 2017
BACKGROUND: Injury to cells adjacent to an intracerebral hemorrhage (ICH) is likely mediated at least in part by toxins released from the hematoma that initiate complex and interacting injury cascades.
Chen-Roetling, Jing, Regan, Raymond F.
core   +1 more source

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne de Laet   +7 more
wiley   +1 more source

Acute intermittent porphyria case in clinical practice internist

Journal of Education, Health and Sport, 2019
Porphyria is group of eight metabolic disorders characterized by defects in hemebiosynthesis. The presentation of porphyria is highly variable, and the symptoms are non specific, which accounts in part for delay sinestablishing a diagnosis.
V. V. Chopyak, Y. F. Tolstyak
doaj   +3 more sources