EXPLORE B : A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms [PDF]
, 2022 One-year data from EXPLORE Part A showed high disease burden and impaired quality of life (QOL) in patients with acute hepatic porphyria (AHP) with recurrent attacks.
Bonkovsky, Herbert L. +10 more
core +2 more sources
Evaluation of metabolic changes in acute intermittent porphyria patients by targeted metabolomics [PDF]
, 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 ...
Aguilera Peiró, Paula +7 more
core +1 more source
Long-term follow-up of acute porphyria in female patients : Update of clinical outcome and life expectancy [PDF]
, 2022 Background: Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients.
Baumann, Katrin, Kauppinen, Raili
core +1 more source
High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria
JIMD Reports, 2022 Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns +4 more
doaj +1 more source
Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment [PDF]
, 2022 Rare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinical ...
AVILA, Matias A. +10 more
core +3 more sources
Using RNAi in the treatment of cardiovascular diseases - therapeutics based on siRNA overview [PDF]
, 2022 RNA interference (RNAi) discovered in the 1990s by Fire and Mello plays a role in silencing gene function. One type of RNAi is siRNA, which is a double-stranded molecule of 20-25 base pairs.
Rusinowska, Barbara
core +1 more source
RNA Biology, 2022 Nucleic acid-based therapeutics that control gene expression have been steadily progressing towards achieving their full clinical potential throughout the last few decades.
Sumit Gangopadhyay, Kiran R Gore
doaj +1 more source
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function [PDF]
, 2022 Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1-hydroxymethylbilane (HMB).
Aarsand, Aasne Karine +4 more
core +1 more source
The therapeutic prospects of N-acetylgalactosamine-siRNA conjugates [PDF]
, 2022 RNA interference has become increasingly used for genetic therapy following the rapid development of oligonucleotide drugs. Significant progress has been made in its delivery system and implementation in the treatment of target organs.
Guohui Liang +6 more
core +1 more source
Brazilian registry of patients with porphyria: REBRAPPO study
Orphanet Journal of Rare Diseases, 2023 Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic ...
Paulo Victor Sgobbi Souza +13 more
doaj +1 more source