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Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.
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, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA, Ranganath LR. Griffin R, et al. Among authors: daroszewska a. Data Brief. 2018 Sep 12;20:1620-1628. doi: 10.1016/j.dib.2018.09.021. eCollection 2018 Oct. Data Brief. 2018. PMID: 30263914 Free PMC article.
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
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, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA. Ranganath LR, et al. Among authors: daroszewska a. Mol Genet Metab. 2018 Sep;125(1-2):127-134. doi: 10.1016/j.ymgme.2018.07.011. Epub 2018 Jul 24. Mol Genet Metab. 2018. PMID: 30055994
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
Hocking LJ, Lucas GJ, Daroszewska A, Cundy T, Nicholson GC, Donath J, Walsh JP, Finlayson C, Cavey JR, Ciani B, Sheppard PW, Searle MS, Layfield R, Ralston SH. Hocking LJ, et al. Among authors: daroszewska a. J Bone Miner Res. 2004 Jul;19(7):1122-7. doi: 10.1359/JBMR.0403015. Epub 2004 Mar 22. J Bone Miner Res. 2004. PMID: 15176995 Free article.
Genetics of Paget's disease of bone.
Daroszewska A, Ralston SH. Daroszewska A, et al. Clin Sci (Lond). 2005 Sep;109(3):257-63. doi: 10.1042/CS20050053. Clin Sci (Lond). 2005. PMID: 16104845 Review.
24 results