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

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

Abstract 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 c...

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Bibliographic Details
Main Authors: Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath
Format: Article
Language:English
Published: Wiley 2022-07-01
Series:JIMD Reports
Subjects:
Alkaptonuria
composite measure
disease progression
nitisinone
resource‐limited
Online Access:https://doi.org/10.1002/jmd2.12290

Internet

https://doi.org/10.1002/jmd2.12290

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