Publications

Transthyretin Amyloidosis (ATTR)

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis

Amyloid

Author(s)

Masateru Tajiri, Mitsuto Sato, Minori Kodaira, et al

Acute Hepatic Porphyria (AHP)

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases

Author(s)

Eliane Sardh, Manisha Balwani, David C. Rees, et al

Acute Hepatic Porphyria (AHP)

High disease burden and healthcare resource usage in patients with acute porphyria—A population-based analysis

Liver International

Author(s)

Ulrich Stölzel, Bjoern Ambrosius, Brun S, et al

Primary Hyperoxaluria Type 1 (PH1)

Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 30-month analysis of the phase 3 ILLUMINATE-B trial

Frontiers in Pediatrics

Author(s)

Yaacov Frishberg, Wesley Hayes, Hadas Shasha-Lavsky, et al

Transthyretin Amyloidosis (ATTR)

Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy

New England Journal of Medicine

Author(s)

Marianna Fontana, John L. Berk, Julian D. Gillmore, et al

Primary Hyperoxaluria Type 1 (PH1)

Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning

Journal of the American Medical Informatics Association

Author(s)

Balu Bhasuran, Katharina Schmolly, Yuvraaj Kapoor, et al

Transthyretin Amyloidosis (ATTR)

Effectiveness of patisiran after switching from tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy

European Journal of Neurology

Author(s)

Celine Labeyrie, Madeline Merkel, Sakshi Sethi, et al

Transthyretin Amyloidosis (ATTR)

Six-minute walk test as clinical end point in cardiomyopathy clinical trials, including ATTR-CM: a systematic literature review

Journal of Comparative Effectiveness Research

Author(s)

Jose Nativi-Nicolau, Ali Yilmaz, Noel Dasgupta, et al

Acute Hepatic Porphyria (AHP)

A randomized, placebo-controlled study of givosiran in patients with acute hepatic porphyrias (ENVISION): Final (36-month) analysis of the Taiwan Cohort

Journal of the Formosan Medical Association

Author(s)

Ming-Jen Lee, Hung-Chou Kuo, Lin-Na Chou, et al

Primary Hyperoxaluria Type 1 (PH1)

Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1: Results from a Phase III Clinical Trial

Kidney International Reports

Author(s)

Jeffrey M. Saland, John C. Lieske, Jaap W. Groothoff, et al