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

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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Bibliographic Details
Main Authors: Arnoux, J.-B (Author), Cant, H.E.O (Author), Chatzidaki, I. (Author), Eddowes, L.A (Author), Imrich, R. (Author), Olsson, B. (Author), Ranganath, L.R (Author), Rudebeck, M. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
Alkaptonuria
composite measure
disease progression
nitisinone
resource-limited
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