Analysis of the Phenotype Differences in Siblings with Alkaptonuria by Andrea Zatkova, Birgitta Olsson, Lakshminarayan R. Ranganath, Richard Imrich

Get full text

First decade anniversary of the United Kingdom National Alkaptonuria Centre by Milad Khedr, Nick Sireau, George Bou‐Gharios, Jim A. Gallagher, Lakshminarayan R. Ranganath

Get full text

Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression by Andrew S. Davison, Gin Hughes, Joanne A. Harrold, Pam Clarke, Rebecca Griffin, Lakshminarayan R. Ranganath

Get full text

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients by Mohammad S. Z. Ahmad, Mahmoud Ahmed, Milad Khedr, Alfredo Borgia, Andrea Madden, Lakshminarayan R. Ranganath, Stephen Kaye

Get full text

Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigme... by Peter J. M. Wilson, Lakshminarayan R. Ranganath, George Bou‐Gharios, James A. Gallagher, Juliette H. Hughes

Get full text

Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria by Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Anna M. Milan, James A. Gallagher, Jonathan C. Jarvis, Lakshminarayan R. Ranganath

Get full text

Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC‐QTOF‐MS by Andrew S. Davison, Brendan P. Norman, Gordon A. Ross, Andrew T. Hughes, Milad Khedr, Anna M. Milan, James A. Gallagher, Lakshminarayan R. Ranganath

Get full text

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index by Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath

Get full text

Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial by Nicola Ooi, Ian R. Cooper, Brendan Norman, James A. Gallagher, Nick Sireau, George Bou-Gharios, Lakshminarayan R. Ranganath, Victoria J. Savage

Get full text

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre by Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher

Get full text

Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium by Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau, Lakshminarayan R. Ranganath

Get full text

Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients by Federica Genovese, Peder Frederiksen, Anne-Christine Bay-Jensen, Morten A. Karsdal, Anna M. Milan, Birgitta Olsson, Mattias Rudebeck, James A. Gallagher, Lakshminarayan R. Ranganath

Get full text

Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling by Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Brendan P. Norman, Mohammed Alsbou, Richard Imrich, Matthew Gornall, Nicolas Sireau, James A. Gallagher, Richard Jackson

Get full text

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatmen... by Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher

Get full text

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria by Lakshminarayan R. Ranganath, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan

Get full text

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism by Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher

Get full text

Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria by Brendan P. Norman, Andrew S. Davison, Bryony Hickton, Gordon A. Ross, Anna M. Milan, Andrew T. Hughes, Peter J. M. Wilson, Hazel Sutherland, Juliette H. Hughes, Norman B. Roberts, George Bou-Gharios, James A. Gallagher, Lakshminarayan R. Ranganath

Get full text

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone by Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath

Get full text

Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies by Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, Daniela Giustarini, Barbara Marzocchi, Ranieri Rossi, Giulia Bernardini, Ottavia Spiga, James A. Gallagher, Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Richard Imrich, Mohammed S. Al-Sbou, Matthew Gornall, Richard Jackson, Lakshminarayan R. Ranganath, Annalisa Santucci

Get full text