Results 1 to 10 of about 31,642 (216)
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria [PDF]
New England Journal of Medicine, 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 ...
Eliane Sardh +2 more
exaly +3 more sources
Science Translational Medicine, 2018 The off-patent marketed antifungal ciclopirox improves symptoms in a mouse model of congenital erythropoietic porphyria. Drug repurposing helps iron out porphyria Porphyria is an inherited incurable disorder resulting from the buildup of heme precursors ...
Pedro Urquiza +2 more
exaly +4 more sources
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
New England Journal of Medicine, 2020 BACKGROUND Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute attacks and chronic symptoms in acute hepatic ...
Manisha Balwani +2 more
exaly +2 more sources
Journal of Internal Medicine, 2022 The acute hepatic porphyrias (AHP) are associated with a risk of primary liver cancer (PLC), but risk estimates are unclear, and what AHP characteristics that predict PLC risk are unknown. In this register‐based, matched cohort study, we assessed the PLC
Mattias Lissing +2 more
exaly +2 more sources
Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study [PDF]
Orphanet Journal of Rare Diseases, 2021 Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates.
Liz Gill +9 more
doaj +2 more sources
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
Nature Communications, 2016 Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates.
Yu Fukuda +2 more
exaly +2 more sources
Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj +2 more sources
Journal of Inherited Metabolic Disease, 2023 Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and ...
P. Stein +5 more
semanticscholar +1 more source