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Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

Background: Alkaptonuria (AKU) is a rare disorder with no licensed treatment; nitisinone may reduce symptoms and progression. The All Alkaptonuria Severity Score Index (AKUSSI) measures disease severity in clinical, joint and spine domains, with 57 subcomponent feature scores. Our primary aim was to...

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書誌詳細
出版年:JIMD Rep
主要な著者: Langford, Bryony, Besford, Megan, Hall, Aimée, Eddowes, Lucy, Timmis, Oliver, Gallagher, James A., Ranganath, Lakshminarayan
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122049/
https://ncbi.nlm.nih.gov/pubmed/29654544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_98
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