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Gallagher, James A ORCID: 0000-0002-0852-279X, Dillon, Jane P ORCID: 0000-0002-7055-5664, Sireau, Nicolas, Timmis, Oliver and Ranganath, Lakshminarayan R (2016) Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, 52. pp. 53-57.

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Keenan, Craig M ORCID: 0000-0002-8782-8016, Sutherland, Hazel, Edwards, Henry R, Wilson, Peter JM, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2021) Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces. Calcified Tissue International, 108 (2). pp. 207-218.

Ahmad, Mohammad SZ ORCID: 0000-0002-5972-0358, Ahmed, Mahmoud, Khedr, Milad, Borgia, Alfredo, Madden, Andrea, Ranganath, Lakshminarayan R and Kaye, Stephen ORCID: 0000-0003-0390-0592 (2022) Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients. JIMD Reports, 63 (4). pp. 351-360.

Norman, Brendan ORCID: 0000-0001-9293-4852 (2019) Biochemical Investigations in the Rare Disease Alkaptonuria: Studies on the Metabolome and the Nature of Ochronotic Pigment. PhD thesis, University of Liverpool.

Taylor, Adam M, Hsueh, Ming-Feng, Ranganath, Lakshminarayan R, Gallagher, James A ORCID: 0000-0002-0852-279X, Dillon, Jane P ORCID: 0000-0002-7055-5664, Huebner, Janet L, Catterall, Jon B and Kraus, Virginia B (2017) Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. RHEUMATOLOGY, 56 (1). pp. 156-164.

Rudebeck, Mattias, Scott, Ciaran, Rhodes, Nicholas P ORCID: 0000-0002-5173-7032, van Kan, Christa, Olsson, Birgitta, Al-sbou, Mohammed, Hall, Anthony K, Sireau, Nicolas and Ranganath, Lakshminarayan R (2021) Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium. ORPHANET JOURNAL OF RARE DISEASES, 16 (1). 510-.

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Ranganath, Lakshminarayan R ORCID: 0000-0002-4205-2269, Milan, Anna M, Hughes, Andrew T, Khedr, Milad, Norman, Brendan P ORCID: 0000-0001-9293-4852, Alsbou, Mohammed, Imrich, Richard, Gornall, Matthew, Sireau, Nicolas, Gallagher, James A ORCID: 0000-0002-0852-279X et al (show 1 more authors) and Jackson, Richard (2022) Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling. JIMD reports, 63 (1). pp. 80-92.

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Ranganath, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Davison, Andrew S ORCID: 0000-0001-5501-4475, Khedr, Milad, Imrich, Richard, Rudebeck, Mattias, Olsson, Birgitta, Norman, Brendan P ORCID: 0000-0001-9293-4852, Bou-Gharios, George et al (show 1 more authors) and Gallagher, James A (2022) Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment. METABOLITES, 12 (8). 772-.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hickton, Bryony, Ross, Gordon A, Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Wilson, Peter JM, Sutherland, Hazel, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Roberts, Norman B et al (show 3 more authors) , Bou-Gharios, George, Gallagher, James A and Ranganath, Lakshminarayan R (2022) Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria. METABOLITES, 12 (10). 927-.

Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Ross, Gordon A, Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Sutherland, Hazel, Jarvis, Jonathan C, Roberts, Norman B, Gallagher, James A ORCID: 0000-0002-0852-279X and Ranganath, Lakshminarayan R (2019) A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria. Clinical chemistry, 65 (4). pp. 530-539.

Keenan, Craig M ORCID: 0000-0002-8782-8016, Beckett, Alison J ORCID: 0000-0001-8377-325X, Sutherland, Hazel, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Prior, Ian A ORCID: 0000-0002-4055-5161 and Gallagher, James A (2019) Concentric lamellae - novel microanatomical structures in the articular calcified cartilage of mice. SCIENTIFIC REPORTS, 9 (1). 11188-.

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Hughes, Juliette H ORCID: 0000-0001-6155-4136, Liu, Ke, Plagge, Antonius ORCID: 0000-0001-6592-1343, Wilson, Peter JM, Sutherland, Hazel, Norman, Brendan P ORCID: 0000-0001-9293-4852, Hughes, Andrew T, Keenan, Craig M ORCID: 0000-0002-8782-8016, Milan, Anna M ORCID: 0000-0002-0452-2338, Sakai, Takao ORCID: 0000-0002-7375-5450 et al (show 3 more authors) , Ranganath, Lakshminarayan R, Gallagher, James A and Bou-Gharios, George (2019) Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Human Molecular Genetics, 28 (23). pp. 3928-3939.

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Hughes, Juliette H ORCID: 0000-0001-6155-4136, Liu, Ke, Plagge, Antonius ORCID: 0000-0001-6592-1343, Wilson, Peter JM, Sutherland, Hazel, Norman, Brendan P, Hughes, Andrew T, Keenan, Craig M, Milan, Anna M, Sakai, Takao ORCID: 0000-0002-7375-5450 et al (show 3 more authors) , Ranganath, Lakshminarayan R, Gallagher, James A and Bou-Gharios, George ORCID: 0000-0002-9563-9418 (2019) Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Human molecular genetics.

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Wilson, Peter JM, Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T, Milan, Anna M ORCID: 0000-0002-0452-2338, Jarvis, Jonathan C, Bou-Gharios, George, Ranganath, Lakshminarayan R and Gallagher, James A (2020) Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (2). pp. 259-268.

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Braconi, Daniela, Geminiani, Michela, Psarelli, Eftychia Eirini, Giustarini, Daniela, Marzocchi, Barbara, Rossi, Ranieri, Bernardini, Giulia, Spiga, Ottavia, Gallagher, James A, Kim-Hanh, Le Quan Sang et al (show 7 more authors) , Arnoux, Jean-Baptiste, Imrich, Richard, Al-Sbou, Mohammed S, Gornall, Matthew, Jackson, Richard, Ranganath, Lakshminarayan R and Santucci, Annalisa (2022) Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies. CELLS, 11 (22). 3668-.

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Ranganath, Lakshminarayan R, Psarelli, Eftychia Eirini ORCID: 0000-0002-3102-0288, Arnoux, Jean-Baptiste, Braconi, Daniela, Briggs, Michael, Broijersen, Anders, Loftus, Nadia, Bygott, Helen, Cox, Trevor F, Davison, Andrew S ORCID: 0000-0001-5501-4475 et al (show 39 more authors) , Dillon, Jane P ORCID: 0000-0002-7055-5664, Fisher, Michael, FitzGerald, Richard, Genovese, Federica, Glasova, Helena, Hall, Anthony K, Hughes, Andrew T, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Imrich, Richard, Jarvis, Jonathan C, Khedr, Milad, Laan, Dinny, Sang, Kim-Hanh Le Quan, Luangrath, Emily, Lukacova, Olga, Milan, Anna M, Mistry, Alpesh, Mlynarikova, Vanda, Norman, Brendan P ORCID: 0000-0001-9293-4852, Olsson, Birgitta, Rhodes, Nicholas P ORCID: 0000-0002-5173-7032, Rovensky, Jozef, Rudebeck, Mattias, Santucci, Annalisa, Shweihdi, Ella, Scott, Ciaran, Sedlakova, Jana, Sireau, Nicolas, Stancik, Roman, Szamosi, Johan, Taylor, Sophie, van Kan, Christa, Vinjamuri, Sobhan, Vrtikova, Eva, Webb, Chris, West, Elizabeth, Zanova, Elizabeth, Zatkova, Andrea and Gallagher, James A ORCID: 0000-0002-0852-279X (2020) Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. The Lancet Diabetes and Endocrinology, 8 (9). pp. 762-772.

Ooi, Nicola, Cooper, Ian R, Norman, Brendan ORCID: 0000-0001-9293-4852, Gallagher, James A, Sireau, Nick, Bou-Gharios, George, Ranganath, Lakshminarayan R and Savage, Victoria J (2023) Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial. CELLS, 12 (13). 1683-.

Davison, Andrew S ORCID: 0000-0001-5501-4475, Norman, Brendan P ORCID: 0000-0001-9293-4852, Ross, Gordon A, Hughes, Andrew T, Khedr, Milad ORCID: 0000-0002-4998-2397, Milan, Anna M ORCID: 0000-0002-0452-2338, Gallagher, James A and Ranganath, Lakshminarayan R (2019) Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS. JIMD reports, 48 (1). pp. 67-74.

Wilson, Peter JM, Ranganath, Lakshminarayan R, Bou-Gharios, George, Gallagher, James A ORCID: 0000-0002-0852-279X and Hughes, Juliette H ORCID: 0000-0001-6155-4136 (2021) Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. JIMD reports, 58 (1). pp. 52-60.

Khedr, Milad ORCID: 0000-0002-4998-2397, Sireau, Nick, Bou-Gharios, George, Gallagher, Jim A and Ranganath, Lakshminarayan R (2023) First decade anniversary of the United Kingdom National Alkaptonuria Centre. JIMD reports, 64 (2). pp. 212-213.

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Ranganath, Lakshminarayan R, Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Khedr, Milad ORCID: 0000-0002-4998-2397, Davison, Andrew S ORCID: 0000-0001-5501-4475, Shweihdi, Ella, Norman, Brendan P ORCID: 0000-0001-9293-4852, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Bygott, Helen, Luangrath, Emily et al (show 20 more authors) , Fitzgerald, Richard, Psarelli, Eftychia E ORCID: 0000-0002-3102-0288, van Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean-Baptiste, Sang, Kim-Hanh Le Quan, Jarvis, Jonathan C, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stancik, Roman, Imrich, Richard, Rhodes, Nicholas P ORCID: 0000-0002-5173-7032 and Gallagher, James A ORCID: 0000-0002-0852-279X (2020) 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, 43 (4). pp. 737-747.

Davison, Andrew S ORCID: 0000-0001-5501-4475, Norman, Brendan P ORCID: 0000-0001-9293-4852, Sutherland, Hazel, Milan, Anna M, Gallagher, James A ORCID: 0000-0002-0852-279X, Jarvis, Jonathan C and Ranganath, Lakshminarayan R (2022) Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria. METABOLITES, 12 (6). 477-.

Davison, Andrew S ORCID: 0000-0001-5501-4475, Hughes, Gin, Harrold, Joanne A ORCID: 0000-0002-0899-4586, Clarke, Pam ORCID: 0000-0002-1430-1037, Griffin, Rebecca and Ranganath, Lakshminarayan R (2022) Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression. JIMD reports, 63 (3). pp. 221-230.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Sutherland, Hazel, Wilson, Peter JM, Berry, Neil G ORCID: 0000-0003-1928-0738, Hughes, Andrew T, Milan, Anna M, Jarvis, Jonathan C, Roberts, Norman B et al (show 3 more authors) , Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2022) Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. GENES & DISEASES, 9 (4). pp. 1129-1142.

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Khedr, Milad ORCID: 0000-0002-4998-2397, Cooper, Maggie S, Hughes, Andrew T, Milan, Anna M ORCID: 0000-0002-0452-2338, Davison, Andrew S ORCID: 0000-0001-5501-4475, Norman, Brendan P ORCID: 0000-0001-9293-4852, Sutherland, Hazel, Jarvis, Jonathan C, Fitzgerald, Richard, Markinson, Louise et al (show 5 more authors) , Psarelli, Eftychia-Eirini ORCID: 0000-0002-3102-0288, Ghane, Parisa, Deutz, Nicolaas EP, Gallagher, James A ORCID: 0000-0002-0852-279X and Ranganath, Lakshminarayan R (2020) Nitisinone causes acquired tyrosinosis in alkaptonuria. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (5). pp. 1014-1023.

Ranganath, Lakshminarayan R, Norman, Brendan P ORCID: 0000-0001-9293-4852 and Gallagher, James A (2019) Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. JOURNAL OF INHERITED METABOLIC DISEASE, 42 (5). pp. 776-792.

Chow, Wing Ying, Norman, Brendan P ORCID: 0000-0001-9293-4852, Roberts, Norman B, Ranganath, Lakshminarayan R, Teutloff, Christian, Bittl, Robert, Duer, Melinda J, Gallagher, James A ORCID: 0000-0002-0852-279X and Oschkinat, Hartmut (2020) Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. ANGEWANDTE CHEMIE-INTERNATIONAL EDITION, 59 (29). pp. 11937-11942.

Chow, Wing Ying ORCID: 0000-0003-0719-5958, Norman, Brendan P ORCID: 0000-0001-9293-4852, Roberts, Norman B, Ranganath, Lakshminarayan R ORCID: 0000-0002-4205-2269, Teutloff, Christian ORCID: 0000-0001-6949-1985, Bittl, Robert ORCID: 0000-0003-4103-3768, Duer, Melinda J ORCID: 0000-0002-9196-5072, Gallagher, James A ORCID: 0000-0002-0852-279X and Oschkinat, Hartmut ORCID: 0000-0002-4384-9544 (2020) Pigmentierungschemie und radikalbasierter Kollagenabbau bei Alkaptonurie und Arthrose. Angewandte Chemie, 132 (29). pp. 12035-12040.

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Imrich, Richard, Sedlakova, Jana, Ulehlova, Maria, Gornall, Matthew, Jackson, Richard, Olsson, Birgitta, Rudebeck, Mattias, Gallagher, James, Lukacova, Ol'ga, Mlynarikova, Vanda et al (show 10 more authors) , Stancik, Roman, Vrtikova, Eva, Zanova, Elizabeth, Zat'kova, Andrea, Arnoux, Jean-Baptiste, Rovensky, Jozef, Luangrath, Emily, Bygott, Helen, Khedr, Milad and Ranganath, Lakshminarayan R (2022) Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone. RMD OPEN, 8 (2). e002422-.

Ranganath, Lakshminarayan R ORCID: 0000-0002-4205-2269, Milan, Anna M, Hughes, Andrew T, Khedr, Milad, Davison, Andrew S ORCID: 0000-0001-5501-4475, Wilson, Peter J, Dillon, Jane P ORCID: 0000-0002-7055-5664, West, Elizabeth and Gallagher, James A (2020) Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre. JIMD reports, 55 (1). pp. 75-87.

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Ranganath, Lakshminarayan R, Hughes, Andrew T, Davison, Andrew S ORCID: 0000-0001-5501-4475, Khedr, Milad, Imrich, Richard, Rudebeck, Mattias, Olsson, Birgitta, Norman, Brendan P ORCID: 0000-0001-9293-4852, Bou-Gharios, George, Gallagher, James A et al (show 1 more authors) and Milan, Anna M ORCID: 0000-0002-0452-2338 (2022) Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria. METABOLITES, 12 (10). 920-.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Sutherland, Hazel, Wilson, Peter J, Berry, Neil G, Hughes, Andrew T, Milan, Anna M, Jarvis, Jonathan C, Roberts, Norman B et al (show 3 more authors) , Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A (2020) Studies in alkaptonuria reveal new roles beyond drug clearance for phase I and II biotransformations in tyrosine metabolism. biorxiv. (Unpublished)

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Keenan, Craig M ORCID: 0000-0002-8782-8016, Sutherland, Hazel, Edwards, Henry R, Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2021) The anatomical distribution of ochronotic pigment in alkaptonuric mice reveals that ageing and mechanical loading make collagen susceptible to chemical attack. .

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Bou-Gharios, George, Ranganath, Lakshminarayan R and Gallagher, James A (2019) The contribution of mouse models in the rare disease alkaptonuria. Drug Discovery Today: Disease Models, 31. pp. 37-43.

Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Davison, Andrew S ORCID: 0000-0001-5501-4475, Devine, Jean, Usher, Jeannette, Curtis, Sarah, Khedr, Milad ORCID: 0000-0002-4998-2397, Gallagher, James A ORCID: 0000-0002-0852-279X and Ranganath, Lakshminarayan R (2017) The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Annals of Clinical Biochemistry, 54 (3). pp. 323-330.