Results 51 to 60 of about 789 (146)

Exploring current and emerging therapies for porphyrias

Liver International, Volume 44, Issue 9, Page 2174-2190, September 2024.
Abstract Porphyrias are rare, mostly inherited disorders resulting from altered activity of specific enzymes in the haem synthesis pathway that lead to accumulation of pathway intermediates. Photocutaneous symptoms occur when excess amounts of photoreactive porphyrins circulate in the blood to the skin, whereas increases in potentially neurotoxic ...
Daniel Jericó, Karol M. Córdoba, Francesco Urigo, Rafael Enríquez de Salamanca, Karl E. Anderson, Jean‐Charles Deybach, Matías A. Ávila, Antonio Fontanellas   +7 more
wiley   +1 more source

Elevated homocysteine is negatively correlated with plasma cystathionine β‐synthase activity in givosiran‐treated patients

JIMD Reports, Volume 65, Issue 4, Page 262-271, July 2024.
Abstract Givosiran is a subcutaneously administered, liver‐targeted RNA interference (RNAi) therapeutic that has been approved for treating acute hepatic porphyria (AHP). Elevation in plasma homocysteine (hyperhomocysteinemia) has been reported in AHP patients, and treatment with givosiran has been reported to further increase homocysteine levels in ...
Mark A. Keibler, Gautham V. Sridharan, Marianne T. Sweetser, Simina Ticau   +3 more
wiley   +1 more source

Analysis of whole blood protoporphyrin and plasma porphyrin in patients on dapsone

Photodermatology, Photoimmunology &Photomedicine, Volume 40, Issue 2, March 2024.
Amrutha Haridas, Robert S. Dawe, Victoria A. McGuire   +2 more
wiley   +1 more source

A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria—a case report

Frontiers in Endocrinology
IntroductionVariegate porphyria (VP) is a rare metabolic disorder. Its diagnosis is challenging when cutaneous features are absent and symptoms overlap with common conditions like diabetic neuropathy.Case presentationWe report a 71-year-old female with a
XiaoLi Yan, ZhongSen Xu, ZiYing Huang, JinSen Chen, MengTing Ye, YuLin Huang, ChenChen Wang   +6 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Swiss patients with variegate porphyria have unique mutations

Swiss Medical Weekly, 2006
X Schneider-Yin, EI Minder
doaj   +1 more source

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report. [PDF]

Cureus, 2018
Rasheed F, Mehdi QS, Bhatti S, Ali Khan MM.   +3 more
europepmc   +1 more source

New heterozygous mutation of protoporphyrinogen oxidase gene in a case of variegate porphyria in Taiwan

Dermatologica Sinica, 2020
Meng-Han Shen, Min-Hui Chi, Tseng-Tong Kuo   +2 more
doaj   +1 more source

Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation. [PDF]

Gastroenterol Rep (Oxf)
Stölzel U, Knoppke B, Stauch T, von Eichborn MI, Bonkovsky HL, Melter M.   +5 more
europepmc   +1 more source

Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria. [PDF]

Cureus
Fatima I, Awais KAD, Sehbai A, Tareen AAK, Shaharyar M.   +4 more
europepmc   +1 more source