Transthyretin Amyloidosis (ATTR)
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program
Circulation: Genomic and Precision Medicine
Primary Hyperoxaluria Type 1 (PH1)
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial
Clinical Journal of the American Society of Nephrology
Primary Hyperoxaluria Type 1 (PH1)
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
New England Journal of Medicine
Cardiovascular (CV)
Renoprotective Effects of Small Interfering RNA Targeting Liver Angiotensinogen in Experimental Chronic Kidney Disease
Hypertension
Cardiovascular (CV)
No evidence for brain renin-angiotensin system activation during DOCA-salt hypertension
Clinical Science
Transthyretin Amyloidosis (ATTR)
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
The Lancet Neurology
Acute Hepatic Porphyria (AHP)
Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levels
JIMD Reports
Transthyretin Amyloidosis (ATTR)
Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank
Amyloid
Transthyretin Amyloidosis (ATTR)
Investigating the pharmacodynamic durability of GalNAc-siRNA conjugates
Nucleic Acids Research
Acute Hepatic Porphyria (AHP)
Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria
PLOS One
