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Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the extent of AKU disease. However, some components...

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Detalles Bibliográficos
Autores principales: Cant, Harriet E. O., Chatzidaki, Iro, Olsson, Birgitta, Rudebeck, Mattias, Arnoux, Jean‐Baptiste, Imrich, Richard, Eddowes, Lucy A., Ranganath, Lakshminarayan R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259391/
https://www.ncbi.nlm.nih.gov/pubmed/35822087
http://dx.doi.org/10.1002/jmd2.12290