Penelope E. Stein
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View article: Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management Open
The acute hepatic porphyrias (AHPs) include three autosomal dominant disorders, acute intermittent porphyria, variegate porphyria and hereditary coproporphyria, and the ultra‐rare autosomal recessive 5‐aminolevulinic acid dehydratase‐defic…
View article: Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network Open
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, st…
View article: Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias
Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias Open
The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem bi…
View article: Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study
Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study Open
Background & Aims Upregulation of hepatic delta‐aminolevulinic acid synthase 1 with accumulation of potentially toxic heme precursors delta‐aminolevulinic acid and porphobilinogen is fundamental to the pathogenesis of acute hepatic porphyr…
View article: Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria Open
Among patients with acute intermittent porphyria, those who received givosiran had a significantly lower rate of porphyria attacks and better results for multiple other disease manifestations than those who received placebo. The increased …
View article: EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks Open
Background and Aims Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long…
View article: Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria Open
Once-monthly injections of givosiran in patients who had recurrent porphyria attacks resulted in mainly low-grade adverse events, reductions in induced ALAS1 mRNA levels, nearly normalized levels of the neurotoxic intermediates delta amino…
View article: Update review of the acute porphyrias
Update review of the acute porphyrias Open
Summary Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asympt…