Results 41 to 50 of about 1,551 (185)
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators [PDF]
, 2021 Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem biosynthesis pathway.
Aarsand, Aasne Karine +7 more
core +1 more source
Givosiran: a targeted treatment for acute intermittent porphyria. [PDF]
Hematology Am Soc Hematol Educ ProgramAbstract The acute hepatic porphyrias (AHPs) are a family of rare genetic diseases associated with attacks of abdominal pain, vomiting, weakness, neuropathy, and other neurovisceral symptoms. Pathogenic variants in 1 of 4 enzymes of heme synthesis are necessary for the development of AHP, and the onset of acute attacks also requires the ...
Dickey AK, Leaf RK.
europepmc +3 more sources
Liver transplantation, cancer risk and comorbidity in acute porphyria [PDF]
, 2023 The porphyrias are a group of rare, mostly genetic, metabolic diseases caused by alterations in the eight enzymatic steps of the heme biosynthesis pathway.
Lissing, Mattias
core +1 more source
Antibody–siRNA conjugates (ARC): Emerging siRNA drug formulation
Medicine in Drug Discovery, 2022 Antibody–drug conjugates (ADC) utilizing the targeting properties of antibodies and therapeutic effects of drugs have emerged a rapid development in recent years.
Weiran Cao +9 more
doaj +1 more source
2019 FDA TIDES (Peptides and Oligonucleotides) Harvest
Pharmaceuticals, 2020 2019 has been an excellent year in terms of peptides and oligonucleotides (TIDES) approved by the FDA. Despite the drop in the number of total drugs approved by the FDA in 2019 in comparison with 2018 (48 vs.
Danah Al Shaer +3 more
doaj +1 more source
Studies on the acute porphyrias : with special reference to women’s health [PDF]
, 2023 The acute porphyrias are a group of rare inherited disorders of the metabolism of heme. Three acute porphyrias comprise most of the cases: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP).
Vassiliou, Daphne
core +1 more source
Opportunities and challenges for antisense oligonucleotide therapies [PDF]
, 2020 Antisense oligonucleotide (AON) therapies involve short strands of modified nucleotides that target RNA in a sequence-specific manner, inducing targeted protein knockdown or restoration. Currently, 10 AON therapies have been approved in the United States
Aartsma-Rus, A. (Annemieke) +3 more
core +5 more sources
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria [PDF]
, 2019 BACKGROUND: Induction of delta aminolevulinic acid synthase 1 ( ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute intermittent porphyria, a rare inherited
Anderson, Karl E +20 more
core +2 more sources
Canadian Journal of Health Technologies, 2021 CADTH recommends that Givlaari should be reimbursed by public drug plans for the treatment of acute hepatic porphyria (AHP) in adults if certain conditions are met. Givlaari should only be covered to treat patients who have experienced 4 or more attacks requiring either hospitalization, an urgent health care visit, or intravenous hemin in ...
openaire +3 more sources
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Médica Portuguesa, 2023 Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô +10 more
doaj +1 more source