Results 31 to 40 of about 1,115 (145)
JIMD Reports, 2023 A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran.
Christopher D. Ma +2 more
doaj +1 more source
Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications
Diagnostics, 2021 Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci +4 more
doaj +1 more source
Persistir y no desistir: diagnosticando un caso de porfiria aguda intermitente.
Galicia Clínica, 2023 Resumen: Mujer joven con antecedentes de asma y síndrome ansioso-depresivo con escasa adherencia al tratamiento, en seguimiento por Psiquiatría y Médico de Familia desde hace años.
Iván Fernández-Castro +1 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
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
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria [PDF]
Journal of Internal Medicine, 2022 AbstractAcute hepatic porphyria (AHP) is a group of inherited metabolic disorders that affect hepatic heme biosynthesis. They are associated with attacks of neurovisceral manifestations that can be life threatening and constitute what is considered an acute porphyria attack.
Eliane Sardh, Pauline Harper
openaire +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
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
Orphanet Journal of Rare Diseases, 2022 Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci +5 more
doaj +1 more source