Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Shweihdi, Ella, Norman, Brendan P., Hughes, Juliette H., Bygott, Helen, Luangrath, Emily, Fitzgerald, Richard, Psarelli, Eftychia E., Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean‐Baptiste, Le Quan Sang, Kim‐Hanh, Jarvis, Jonathan C., Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stančík, Roman, Imrich, Richard, Rhodes, Nicholas P., Gallagher, James A.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
Rudebeck, Mattias, Scott, Ciarán, Rhodes, Nicholas P, van Kan, Christa, Olsson, Birgitta, Al-Sbou, Mohammed, Hall, Anthony K, Sireau, Nicolas, Ranganath, Lakshminarayan R
Published in Orphanet journal of rare diseases (14.12.2021)
Published in Orphanet journal of rare diseases (14.12.2021)
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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
Ranganath, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Dutton, John J, Fitzgerald, Richard, Briggs, Michael C, Bygott, Helen, Psarelli, Eftychia E, Cox, Trevor F, Gallagher, James A, Jarvis, Jonathan C, van Kan, Christa, Hall, Anthony K, Laan, Dinny, Olsson, Birgitta, Szamosi, Johan, Rudebeck, Mattias, Kullenberg, Torbjörn, Cronlund, Arvid, Svensson, Lennart, Junestrand, Carin, Ayoob, Hana, Timmis, Oliver G, Sireau, Nicolas, Le Quan Sang, Kim-Hanh, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Nemethova, Martina, Zatkova, Andrea, McCaffrey, Judith, Christensen, Peter, Ross, Gordon, Imrich, Richard, Rovensky, Jozef
Published in Annals of the rheumatic diseases (01.02.2016)
Published in Annals of the rheumatic diseases (01.02.2016)
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Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
Ranganath, Lakshminarayan R, Psarelli, Eftychia Eirini, Arnoux, Jean-Baptiste, Braconi, Daniela, Briggs, Michael, Bröijersén, Anders, Loftus, Nadia, Bygott, Helen, Cox, Trevor F, Davison, Andrew S, Dillon, Jane P, Fisher, Michael, FitzGerald, Richard, Genovese, Federica, Glasova, Helena, Hall, Anthony K, Hughes, Andrew T, Hughes, Juliette H, Imrich, Richard, Jarvis, Jonathan C, Khedr, Milad, Laan, Dinny, Le Quan Sang, Kim-Hanh, Luangrath, Emily, Lukáčová, Ol'ga, Milan, Anna M, Mistry, Alpesh, Mlynáriková, Vanda, Norman, Brendan P, Olsson, Birgitta, Rhodes, Nicholas P, Rovenský, Jozef, Rudebeck, Mattias, Santucci, Annalisa, Shweihdi, Ella, Scott, Ciarán, Sedláková, Jana, Sireau, Nicolas, Stančík, Roman, Szamosi, Johan, Taylor, Sophie, van Kan, Christa, Vinjamuri, Sobhan, Vrtíková, Eva, Webb, Chris, West, Elizabeth, Záňová, Elizabeth, Zatkova, Andrea, Gallagher, James A
Published in The lancet. Diabetes & endocrinology (01.09.2020)
Published in The lancet. Diabetes & endocrinology (01.09.2020)
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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy
Nemethova, Martina, Radvanszky, Jan, Kadasi, Ludevit, Ascher, David B, Pires, Douglas E V, Blundell, Tom L, Porfirio, Berardino, Mannoni, Alessandro, Santucci, Annalisa, Milucci, Lia, Sestini, Silvia, Biolcati, Gianfranco, Sorge, Fiammetta, Aurizi, Caterina, Aquaron, Robert, Alsbou, Mohammed, Lourenço, Charles Marques, Ramadevi, Kanakasabapathi, Ranganath, Lakshminarayan R, Gallagher, James A, van Kan, Christa, Hall, Anthony K, Olsson, Birgitta, Sireau, Nicolas, Ayoob, Hana, Timmis, Oliver G, Sang, Kim-Hanh Le Quan, Genovese, Federica, Imrich, Richard, Rovensky, Jozef, Srinivasaraghavan, Rangan, Bharadwaj, Shruthi K, Spiegel, Ronen, Zatkova, Andrea
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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8th European Conference on Rare Diseases Orphan Products
Schlander, Michael, Holm, Saren, Nord, Erik, Richardson, Jeff, Garattini, Silvio, Kolominsky-Rabas, Peter, Marshall, Deborah, Persson, Ulf, Postma, Maarten, Simoens, Steven, de Sola Morales, Oriol, Tolley, Keith, Toumi, Mondher, Telser, Harry, Bonham, James R, Hintner, Helmut, Diem, Anja, Laimer, Martin, Hnbert, Rnjean, Dasgupta, Nabarun, Pierce, Carrie E, Jordan, Melissa, Bori, Barbara, Fors, Mohanad, Prazakova, Emilie, Day, Simon, Croce, Thomas J, Fransson, Jonas, Wood, Philip, Lauridsen, Anne-Grethe, Higgs, Joanne, Aleksovska, Vesna Stojmirova, Olsen, Christina, Head, Ritchie, Asero, Antonio, Papa, Vincenzo, van Kan, Christa, Favennec, Loic, Venturella, Silvana, Salvador, Michela, Krol, Alan, Nielsen, Stephanie J, Holm, Birthe B, Lewi, Daniel, DurA£o, Patricia, Band, Heather, West, Andrea, Hammann, Marinda J. A, Effing-Boele, Marije C, Dekker, Hanka K, Hunter, Amy, Simpson, Amy, Liu, Gumei, Needleman, Katherine, Lewis, Debra, Rao, Gayatri, Whitaker, Martin J, Castro, Raquel
Published in Orphanet journal of rare diseases (01.11.2016)
Published in Orphanet journal of rare diseases (01.11.2016)
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8th European Conference on Rare Diseases & Orphan Products (ECRD 2016): Edinburgh, UK. 26-28 May 2016
Schlander, Michael, Holm, Søren, Nord, Erik, Richardson, Jeff, Garattini, Silvio, Kolominsky-Rabas, Peter, Marshall, Deborah, Persson, Ulf, Postma, Maarten, Simoens, Steven, de Solà Morales, Oriol, Tolley, Keith, Toumi, Mondher, Telser, Harry, Bonham, James R, Hintner, Helmut, Diem, Anja, Laimer, Martin, Hébert, Réjean, Dasgupta, Nabarun, Pierce, Carrie E., Jordan, Melissa, Bori, Barbara, Fors, Mohanad, Prazakova, Emilie, Day, Simon, Croce, Thomas J., Fransson, Jonas, Wood, Philip, Lauridsen, Anne-Grethe, Higgs, Joanne, Aleksovska, Vesna Stojmirova, Olsen, Christina, Head, Ritchie, Asero, Antonio, Papa, Vincenzo, van Kan, Christa, Favennec, Loic, Venturella, Silvana, Salvador, Michela, Krol, Alan, Nielsen, Stephanie J., Holm, Birthe B., Lewi, Daniel, Durão, Patricia, Band, Heather, West, Andrea, Hammann, Marinda J. A., Effing-Boele, Marije C., Dekker, Hanka K., Hunter, Amy, Simpson, Amy, Liu, Gumei, Needleman, Katherine, Lewis, Debra, Rao, Gayatri, Whitaker, Martin J., Castro, Raquel
Published in Orphanet journal of rare diseases (01.11.2016)
Published in Orphanet journal of rare diseases (01.11.2016)
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