{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:13:28Z","timestamp":1792084408420,"version":"4.4.0"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T00:00:00Z","timestamp":1688947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4\u201317\u2009years) with AKU. A clinical evaluation was performed with particular attention to eye, ear, and skin pigmentation, musculoskeletal complaints, magnetic resonance imaging (MRI), and ultrasound (US) imaging abnormalities. The cognitive functioning and adaptive abilities were examined. Molecular genetic analyses were performed. The most common symptoms observed were dark urine (13\/13), followed by joint pain (6\/13), and dark ear wax (6\/13). In 4 of 13 patients the values obtained in the KOOS\u2010child questionnaire were below the reference values. MRI and US did not show degenerative changes in knee cartilages. One child had nephrolithiasis. Almost half of the children with AKU (5\/13) presented deficits in cognitive functioning and\/or adaptive abilities. The most frequent <jats:italic>HGD<\/jats:italic> variants observed in the patients were c.481G&gt;A (p.Gly161Arg) mutation and the c.240A&gt;T (p.His80Gln) polymorphism. The newly described allele of the <jats:italic>HGD<\/jats:italic> gene (c.948G&gt;T, p.Val316Phe) which is potentially pathogenic was identified.<\/jats:p>","DOI":"10.1002\/jimd.12647","type":"journal-article","created":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T10:13:27Z","timestamp":1688379207000},"page":"916-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical presentation of 13 children with alkaptonuria"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4654-4321","authenticated-orcid":false,"given":"Mariusz J.","family":"Kujawa","sequence":"first","affiliation":[{"name":"2nd Department of Radiology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"\u015awi\u0119to\u0144","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology Medical University of Gdansk  Gdansk 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