Oliver Timmis

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment

L. Ranganath, Anna M. Milan, Andrew T. Hughes et al. · Annals of the Rheumatic Diseases · 2014 · 155 citations · Full text

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Genetic Disorder, Alkaptonuria Patients, Genetics +8

The patient’s view on rare disease trial design – a qualitative study

Charlotte M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof et al. · Orphanet Journal of Rare Diseases · 2019 · 61 citations · Full text

Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

Bryony Langford, Megan Besford, Aimée Hall et al. · JIMD Reports · 2018 · 11 citations · Full text