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,...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Medicine and Dentistry
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157456/
https://www.ncbi.nlm.nih.gov/pubmed/30263914
http://dx.doi.org/10.1016/j.dib.2018.09.021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157456/
https://www.ncbi.nlm.nih.gov/pubmed/30263914
http://dx.doi.org/10.1016/j.dib.2018.09.021

Ejemplares similares