Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone

Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer. In an observational study carried out by National AKU Centre (NAC) in Liverpool,...

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Veröffentlicht in:Data Brief
Hauptverfasser: Griffin, R., Psarelli, E.E., Cox, T.F., Khedr, M., Milan, A.M., Davison, A.S., Hughes, A.T., Usher, J.L., Taylor, S., Loftus, N., Daroszewska, A., West, E., Jones, A., Briggs, M., Fisher, M., McCormick, M., Judd, S., Vinjamuri, S., Sireau, N., Dillon, J.P., Devine, J.M., Hughes, G., Harrold, J., Barton, G.J., Jarvis, J.C., Gallagher, J.A., Ranganath, L.R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2018
Schlagworte:
Medicine and Dentistry
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6157456/
https://ncbi.nlm.nih.gov/pubmed/30263914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dib.2018.09.021
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