Article

Norman, BP, Sutherland, H, Wilson, PJM, Rutland, DA, Milan, AM, Hughes, AT, Davison, AS, Khedr, M, Jarvis, JC, Gallagher, JA, Bou-Gharios, G and Ranganath, LR (2024) Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria. Journal of Inherited Metabolic Disease. ISSN 0141-8955

Ranganath, L, Khedr, M, Milan, AM, Davison, AS, Norman, BP, Janssen, MCH, Lock, EA, Bou-Gharios, G and Gallagher, JA (2023) Increased prevalence of Parkinson's disease in alkaptonuria. JIMD reports, 64 (4). pp. 282-292. ISSN 2192-8304

Norman, BP, Davison, AS, Hickton, B, Ross, GA, Milan, AM, Hughes, AT, Wilson, PJM, Sutherland, H, Hughes, JH, Roberts, NB, Bou-Gharios, G, Gallagher, JA and Ranganath, LR (2022) Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria. Metabolites, 12 (10). ISSN 2218-1989

Davison, AS, Norman, BP, Sutherland, H, Milan, AM, Gallagher, JA, Jarvis, JC and Ranganath, LR (2022) Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria. Metabolites, 12 (6). ISSN 2218-1989

Norman, BP, Davison, AS, Hughes, JH, Sutherland, H, Wilson, PJ, Berry, NG, Hughes, AT, Milan, AM, Jarvis, JC, Roberts, NB, Ranganath, LR, Bou-Gharios, G and Gallagher, JA (2021) Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. Genes and Diseases, 9 (4). pp. 1129-1142. ISSN 2352-3042

Khedr, M, Cooper, MS, Hughes, AT, Milan, AM, Davison, AS, Norman, BP, Sutherland, H, Jarvis, JC, Fitzgerald, R, Markinson, L, Psarelli, E-E, Ghane, P, Deutz, NEP, Gallagher, JA and Ranganath, LR (2020) Nitisinone causes acquired tyrosinosis in alkaptonuria. Journal of Inherited Metabolic Diseases. ISSN 1573-2665

Hughes, JH, Wilson, PJM, Sutherland, H, Judd, S, Hughes, AT, Milan, AM, Jarvis, JC, Bou-Gharios, G, Ranganath, LR and Gallagher, JA (2020) Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria. Journal of Inherited Metabolic Disease. pp. 1-10. ISSN 0141-8955

Ranganath, LR, Milan, AM, Hughes, AT, Khedr, M, Davison, AS, Shweihdi, E, Norman, BP, Hughes, JH, Bygott, H, Luangrath, E, Fitzgerald, R, Psarelli, EE, van Kan, C, Laan, D, Olsson, B, Rudebeck, M, Mankowitz, L, Sireau, N, Arnoux, J-B, Le Quan Sang, K-H et al, Jarvis, JC, Genovese, F, Braconi, D, Santucci, A, Zatkova, A, Glasova, H, Stančík, R, Imrich, R, Rhodes, NP and Gallagher, JA (2019) Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. Journal of Inherited Metabolic Disease. ISSN 0141-8955

Cox, TF, Psarelli, EE, Taylor, S, Shepherd, H, Robinson, MA, Barton, GJ, Misty, A, Genovese, F, Braconi, D, Giustarini, D, Rossi, R, Santucci, A, Khedr, M, Hughes, A, Milan, AM, Dillon, J, Gallagher, JA and Ranganath, LR (2019) Subclinical Ochronosis Features In Alkaptonuria: A Cross-Sectional Study. BMJ Innovations. ISSN 2055-642X

Griffin, R, Psarelli, EE, Cox, TF, Khedr, M, Milan, AM, Davison, AS, Hughes, AT, Usher, JL, Taylor, S, Loftus, N, Daroszewska, A, West, E, Jones, A, Briggs, M, Fisher, M, McCormick, M, Judd, S, Vinjamuri, S, Sireau, N, Dillon, JP et al, Devine, JM, Hughes, G, Harrold, J, Barton, GJ, Jarvis, JC, Gallagher, JA and Ranganath, LR (2018) Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone. Data in Brief, 20. pp. 1620-1628. ISSN 2352-3409

Ranganath, LR, Khedr, M, Milan, AM, Davison, AS, Hughes, AT, Usher, JL, Taylor, S, Loftus, N, Daroszewska, A, West, E, Jones, A, Briggs, M, Fisher, M, McCormick, M, Judd, S, Vinjamuri, S, Griffin, R, Psarelli, EE, Cox, TF, Sireau, N et al, Dillon, JP, Devine, JM, Hughes, G, Harrold, J, Barton, GJ, Jarvis, JC and Gallagher, JA (2018) Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. Molecular Genetics and Metabolism, 125 (1/2). pp. 127-134. ISSN 1096-7192

Ranganath, LR, Milan, AM, Hughes, AT, Dutton, JJ, Fitzgerald, R, Briggs, MC, Bygott, H, Psarelli, EE, Cox, TF, Gallagher, JA, Jarvis, JC, van Kan, C, Hall, AK, Laan, D, Olsson, B, Szamosi, J, Rudebeck, M, Kullenberg, T, Cronlund, A, Svensson, L et al, Junestrand, C, Ayoob, H, Timmis, OG, Sireau, N, Le Quan Sang, KH, Genovese, F, Braconi, D, Santucci, A, Nemethova, M, Zatkova, A, McCaffrey, J, Christensen, P, Ross, G, Imrich, R and Rovensky, J (2014) 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. Annals of the Rheumatic Diseases. ISSN 1468-2060