{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:44:36Z","timestamp":1790459076110,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T00:00:00Z","timestamp":1725840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019974","name":"Cure RTD Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019974","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of this longitudinal case series was to describe long\u2010term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high\u2010dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12\u2010month intervals for monitoring of disease progression. Patients had commenced high\u2010dose oral riboflavin from the time of genetic diagnosis. Individuals for whom riboflavin supplementation was initiated early after disease onset had better outcomes compared to those in whom diagnosis was delayed. Despite ongoing riboflavin supplementation, the Charcot\u2013Marie\u2013Tooth disease Pediatric Scale (CMTPedS) total score and the subitems of balance and the 6\u2010Minute Walk Test distance as well as respiratory function worsened, while grip strength improved. There was evidence of improvement in hearing loss and optic atrophy limited to the first 12\u2009months of treatment. While treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and response to riboflavin supplementation over time, we recommend using the RTD Pediatric Scale and provide a list of clinical measures for regular surveillance of children with RTD.<\/jats:p>","DOI":"10.1111\/dmcn.16083","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T02:18:57Z","timestamp":1725934737000},"page":"405-415","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Long\u2010term outcomes in children with riboflavin transporter deficiency and surveillance recommendations"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7985-7837","authenticated-orcid":false,"given":"Jack R.","family":"Fennessy","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health University of Sydney School of Health Sciences  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9863-1040","authenticated-orcid":false,"given":"Kayla M. 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