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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...
Autores principales: | Cant, Harriet E. O., Chatzidaki, Iro, Olsson, Birgitta, Rudebeck, Mattias, Arnoux, Jean‐Baptiste, Imrich, Richard, Eddowes, Lucy A., Ranganath, Lakshminarayan R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |
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