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About 683 results

ALLMedicine™ Acute Intermittent Porphyria Center

Research & Reviews  181 results

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641550
The American Journal of Case Reports; Sriprakoon V, Ittagornpunth C et. al.

Nov 5th, 2022 - BACKGROUND Acute intermittent porphyria (AIP) is a rare genetic disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. AIP is passed by autosomal dominant inheritance. Heterozygous pathogenic variants i...

Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acu...
https://doi.org/10.1007/s00432-022-04384-5
Journal of Cancer Research and Clinical Oncology; Haverkamp T, Bronisch O et. al.

Oct 17th, 2022 - Acute intermittent porphyria (AIP) is a very rare (orphan) metabolic disorder of porphyrin biosynthesis which is characterized by elevated plasma and urine levels of 5-aminolevulinic acid (5-ALA) and porphobilinogen (PBG). Patients with this disor...

'Swollen heart' in the course of acute intermittent porphyria associated with severe hy...
https://doi.org/10.1093/ehjci/jeac186
European Heart Journal. Cardiovascular Imaging; Jaworski K, Wasilewski R et. al.

Sep 8th, 2022 - 'Swollen heart' in the course of acute intermittent porphyria associated with severe hyponatraemia.|2022|Jaworski K,Wasilewski R,Szwed H,Windyga J,Dabrowski R,|complications,diagnostic imaging,etiology,

Development and validation of diagnostic algorithms for the laboratory diagnosis of por...
https://doi.org/10.1002/jimd.12545
Journal of Inherited Metabolic Disease; Lefever S, Peersman N et. al.

Sep 3rd, 2022 - Porphyrias are rare metabolic disorders of the haem synthesis. They can present with acute neurovisceral attacks, cutaneous symptoms, or a combination of both. As they present with a wide variety of clinical symptoms, diagnosis is often delayed an...

Identification of Acute Intermittent Porphyria Modifying Genes
https://clinicaltrials.gov/ct2/show/NCT05502133

Aug 16th, 2022 - This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

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Guidelines  1 results

Best practice guidelines on clinical management of acute attacks of porphyria and their...
https://doi.org/10.1177/0004563212474555
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.

Apr 23rd, 2013 - The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porph...

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Drugs  64 results see all →

Clinicaltrials.gov  16 results

Identification of Acute Intermittent Porphyria Modifying Genes
https://clinicaltrials.gov/ct2/show/NCT05502133

Aug 16th, 2022 - This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

Comparision of Motor Seizure Duration of Ketofol and Propofol for Electroconvulsive Therapy
https://clinicaltrials.gov/ct2/show/NCT05408000

Jun 7th, 2022 - Electroconvulsive therapy (ECT) is a common treatment method used in severe depression and other psychiatric diseases. Currently, most ECT procedures are carried out with muscle paralysis under general anesthesia. It is important to establish an a...

Panhematin for Prevention of Acute Attacks of Porphyria
https://clinicaltrials.gov/ct2/show/NCT02922413

Nov 26th, 2021 - This is a double-blind, randomized, placebo-controlled, parallel group trial investigating the efficacy and safety of Panhematin™ for preventing acute attacks in at least 20 subjects with well-documented acute porphyria (acute intermittent porphyr...

Carbohydrate Counting and DASH Intervention Among Children With Diabetes and Celiac Disease.
https://clinicaltrials.gov/ct2/show/NCT05132725

Nov 24th, 2021 - the main objective of this study to compare the effects of three diets: carbohydrate count with gluten-free diet, DASH and carbohydrate count with gluten-free diet, and gluten-free diet alone on glycemic control, growth rate, and the quality of li...

A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP)
https://clinicaltrials.gov/ct2/show/NCT02949830

Nov 17th, 2021 - The purpose of this study is to determine the long-term safety, tolerability and pharmacokinetics of givosiran (ALN-AS1) in AIP patients

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News  8 results

Royal Family Affliction or Not, Porphyria Is Treatable
https://www.medscape.com/viewarticle/981041

Sep 19th, 2022 - European royal families may be enormously rich, but being a blueblood doesn't always mean your blood is pristine. Queen Victoria's DNA is famously believed to have silently bequeathed hemophilia to many of her descendants, including a great-grands...

Chronic blistering rash on hands
https://www.mdedge.com/familymedicine/article/211805/dermatology/chronic-blistering-rash-hands/page/0/2?channel=203
MDedge Family Medicine;

Nov 7th, 2019 - Pseudoporphyria has a similar presentation to PCT but with no abnormalities in porphyrin metabolism. Risk factors include UV radiation exposure; use of medications such as nonsteroidal anti-inflammatory drugs, diuretics, and retinoids; chronic ren.

VIDEO: Givosiran cuts acute intermittent porphyria attacks in pivotal trial
https://www.mdedge.com/internalmedicine/article/199737/hepatology/video-givosiran-cuts-acute-intermittent-porphyria-attacks/page/0/1?channel=39313

Apr 28th, 2019 - The study’s primary endpoint was the average annualized rate of porphyria attacks during 6 months of treatment, which was 3. 2 attacks in 46 patients evaluable for efficacy on givosiran treatment and 12.

VIDEO: Givosiran cuts acute intermittent porphyria attacks in pivotal trial
https://www.mdedge.com/internalmedicine/article/199737/hepatology/video-givosiran-cuts-acute-intermittent-porphyria-attacks
Mitchel L. Zoler, PhD

Apr 28th, 2019 - VIENNA – A novel RNA-inhibitor drug, givosiran, produced a large cut in acute porphyria attacks in a pivotal trial with 94 patients with acute hepatic porphyria. Although the study also identified some safety issues with givosiran, an RNA-inhibito.

Morning Break: Bankruptcy for Purdue? Burning Vape Rash; FDA Makeup Warning
https://www.medpagetoday.com/painmanagement/opioids/78392

Mar 6th, 2019 - Note that some links may require subscriptions. Fast Company walks through the implications of Purdue Pharma's possible bankruptcy. A British woman says vaping gave her a "horrible" burning rash that landed her in hospital. (Fox News) After allege...

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Patient Education  3 results see all →