{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T09:39:38Z","timestamp":1763545178948},"reference-count":8,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,17]]},"DOI":"10.7759\/cureus.36312","type":"journal-article","created":{"date-parts":[[2023,3,18]],"date-time":"2023-03-18T02:02:46Z","timestamp":1679104966000},"source":"Crossref","is-referenced-by-count":1,"title":["Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report"],"prefix":"10.7759","author":[{"given":"Mohammad I","family":"Alasqah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bshair","family":"Aldriweesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waleed A","family":"Alshareef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muataz H","family":"Alhashem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Alammar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2013.02.015","article-title":"The human flavoproteome","volume":"535","author":"Lienhart WD","year":"2013","unstructured":"Lienhart WD, Gudipati V, Macheroux P. The human flavoproteome. Arch Biochem Biophys. 2013, 535:150-62. 10.1016\/j.abb.2013.02.015","journal-title":"Arch Biochem Biophys"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9924-2","article-title":"Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience","volume":"39","author":"Jaeger B","year":"2016","unstructured":"Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis. 2016, 39:559-64. 10.1007\/s10545-016-9924-2","journal-title":"J Inherit Metab Dis"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12053","article-title":"An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency","volume":"42","author":"O'Callaghan B","year":"2019","unstructured":"O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis. 2019, 42:598-607. 10.1002\/jimd.12053","journal-title":"J Inherit Metab Dis"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2017.03.002","article-title":"The first case of riboflavin transporter deficiency in sub-Saharan Africa","volume":"26","author":"Chaya S","year":"2018","unstructured":"Chaya S, Zampoli M, Gray D, et al.. The first case of riboflavin transporter deficiency in sub-Saharan Africa. Semin Pediatr Neurol. 2018, 26:10-4. 10.1016\/j.spen.2017.03.002","journal-title":"Semin Pediatr Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2017.18","article-title":"Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula","volume":"4","author":"Hossain MA","year":"2017","unstructured":"Hossain MA, Obaid A, Rifai M, et al.. Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula. Hum Genome Var. 2017, 4:17018. 10.1038\/hgv.2017.18","journal-title":"Hum Genome Var"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1080\/14992027.2021.1921291","article-title":"A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)","volume":"61","author":"Gedik Soyuyuce O","year":"2022","unstructured":"Gedik Soyuyuce O, Ayanoglu Aksoy E, Yapici Z. A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency). Int J Audiol. 2022, 61:258-64. 10.1080\/14992027.2021.1921291","journal-title":"Int J Audiol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13084","article-title":"Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency","volume":"58","author":"Menezes MP","year":"2016","unstructured":"Menezes MP, O'Brien K, Hill M, et al.. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. Dev Med Child Neurol. 2016, 58:848-54. 10.1111\/dmcn.13084","journal-title":"Dev Med Child Neurol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1080\/14670100.2018.1534035","article-title":"Cochlear implantation in children with auditory neuropathy: lessons from Brown-Vialetto-Van Laere syndrome","volume":"20","author":"Anderson P","year":"2019","unstructured":"Anderson P, Schaefer S, Henderson L, Bruce IA. Cochlear implantation in children with auditory neuropathy: lessons from Brown-Vialetto-Van Laere syndrome. Cochlear Implants Int. 2019, 20:31-8. 10.1080\/14670100.2018.1534035","journal-title":"Cochlear Implants Int"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/134111-role-of-otolaryngologists-in-the-treatment-of-patients-with-riboflavin-transporter-deficiency-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:54:55Z","timestamp":1707508495000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/134111-role-of-otolaryngologists-in-the-treatment-of-patients-with-riboflavin-transporter-deficiency-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,17]]},"references-count":8,"URL":"https:\/\/doi.org\/10.7759\/cureus.36312","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3,17]]}}}