Toni Mathieson

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Susan M. Stein, Elizabeth Bogard, Nicole Boice et al. · Orphanet Journal of Rare Diseases · 2018 · 44 citations · Full text

Medicine, Health Policy, Pharmacology +9

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Shaun Bolton, Vina Soran, M. Pineda et al. · Orphanet Journal of Rare Diseases · 2022 · 42 citations · Full text

Medicine, Neurology, Pediatrics +17

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia

Taylor Fields, Marc C. Patterson, Tatiana Brémovà-Ertl et al. · Trials · 2021 · 39 citations · Full text

Medicine, Neurology, Pharmacology +17

International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

William Evans, Marc C. Patterson, Frances M. Platt et al. · Orphanet Journal of Rare Diseases · 2021 · 22 citations · Full text

Pharmacy, Pediatrics, Evidence-based Practice +14

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Eugen Mengel, Marc C. Patterson, Michael Chladek et al. · Orphanet Journal of Rare Diseases · 2021 · 10 citations · Full text

Pharmacy, Health Sciences, Palliative Care +16