Get started
Author

Nicolas T Sireau

Observed names: N Sireau, N. Sireau, Nick Sireau, Nicolas Sireau, Sireau N
ORCID: 0000-0001-7871-3471
Observed ORCID: 0000-0001-7871-3471
OpenAlex ID: A5007006363
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
2014 · Lakshminarayan R Ranganath, Anna M Milan, et al. · Annals of the Rheumatic Diseases · 159
PDF
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
2020 · Lakshminarayan R Ranganath, Eftychia Eirini Psarelli, et al. · The Lancet Diabetes & Endocrinology · 132
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy
2015 · Martina Nemethova, Jan Radvanszky, et al. · European Journal of Human Genetics · 103
PDF
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre
2018 · L.R. Ranganath, M. Khedr, et al. · Molecular Genetics and Metabolism · 102
PDF
Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers
2011 · L. Ranganath, A. M. Taylor, et al. · Journal of Inherited Metabolic Disease · 47
Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders
2016 · James A. Gallagher, Jane P. Dillon, et al. · Seminars in Cell and Developmental Biology · 41
Alkaptonuria – Many questions answered, further challenges beckon
2019 · AS Davison, AT Hughes, et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 37
Make Poverty History
2009 · Nicolas Sireau · Palgrave Macmillan UK eBooks · 31
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
2019 · Lakshminarayan R. Ranganath, Anna M. Milan, et al. · Journal of Inherited Metabolic Disease · 28
PDF
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria
2015 · Jean‐Baptiste Arnoux, Kim‐Hanh Le Quan Sang, et al. · Journal of Inherited Metabolic Disease · 27
Subclinical ochronosis features in alkaptonuria: a cross-sectional study
2019 · Trevor Cox, Eftychia Eirini Psarelli, et al. · BMJ Innovations · 25
PDF
Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases
2022 · Marta del Álamo, Christoph Bührer, et al. · Trials · 24
PDF
Make Poverty History: Political Communication in Action
2008 · Nicolas Sireau · 20
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone
2018 · R. Griffin, E.E. Psarelli, et al. · Data in Brief · 19
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
2021 · Lakshminarayan R. Ranganath, Anna M. Milan, et al. · JIMD Reports · 18
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care
2020 · Mattias Rudebeck, Ciarán Scott, et al. · JIMD Reports · 17
PDF
Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
2021 · Mattias Rudebeck, Ciarán Scott, et al. · Orphanet Journal of Rare Diseases · 13
Rare Diseases: Challenges and Opportunities for Social Entrepreneurs
2013 · Nicolas Sireau · 10
Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria—a mini-review
2023 · L. R. Ranganath, Nick Sireau · Orphanet Journal of Rare Diseases · 7
PDF
Findacure – the Fundamental Diseases Partnership
2014 · Anthony K Hall, Nicolas T Sireau · Orphanet Journal of Rare Diseases · 6
PDF
Developing a cure for Black Bone Disease
2012 · Nicolas T Sireau · Orphanet Journal of Rare Diseases · 5
PDF
Rare Diseases: Challenges and Opportunities for Social Entrepreneurs
2017 · Nicolas Sireau · Routledge eBooks · 2
Findacure: empowering patient groups for drug development
2014 · Anthony K Hall, Nicolas Sireau, et al. · Expert Opinion on Orphan Drugs · 1
PDF
Alternative strategies in orphan drug development
2013 · Anthony K Hall, Nicolas Sireau · Expert Opinion on Orphan Drugs · 1
PDF
Clinical Development Innovation in Rare Diseases: Overcoming Barriers to Successful Delivery of A Randomised Clinical Trial in Alkaptonuria
2022 · Ranganath LR, Sireau N · Journal of Clinical Medicine Current Research
PDF
Works count: 34
Citation count: 875
H-index: 16
I10-index: 18
Year
Topic
Type