{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T04:27:46Z","timestamp":1778041666807,"version":"3.51.4"},"reference-count":19,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.ymgme.2022.09.005","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T12:37:01Z","timestamp":1663936621000},"page":"223-229","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease"],"prefix":"10.1016","volume":"137","author":[{"given":"David","family":"Bakhos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Blasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"John J.","family":"Galvin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2022.09.005_bb0005","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2019.03.007","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders","volume":"127","author":"Ferreira","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0010","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ymgme.2019.04.002","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases","volume":"127","author":"Ferreira","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0015","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2020.02.007","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations","volume":"130","author":"Horvath","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0020","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2020.12.290","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease","volume":"132","author":"Ferreira","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0025","article-title":"Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes","author":"Horvath","year":"2021","journal-title":"Mol. Genet. Metab."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2022.09.005_bb0030","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ymgme.2021.07.005","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses","volume":"134","author":"Ferreira","year":"2021","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.ymgme.2022.09.005_bb0035","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ymgme.2022.02.002","article-title":"Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes","volume":"135","author":"Garanto","year":"2022","journal-title":"Mol. Genet. Metab."},{"issue":"22","key":"10.1016\/j.ymgme.2022.09.005_bb0040","first-page":"00281","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias","volume":"S1096-7192","author":"Jerves","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0045","first-page":"151","article-title":"Knowl- edge base and mini-expert platform for the diagnosis of inborn errors of metabo- lism","volume":"20","author":"Lee","year":"2018","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0050","first-page":"102","article-title":"A proposed nosology of in- born errors of metabolism","volume":"21","author":"Ferreira","year":"2019","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0055","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"Group Icimd advisory, an international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0060","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/S0140-6736(21)00516-X","article-title":"2019 Hearing Loss Collaborators. Hearing loss prevalence and years lived with disability, 1990-2019: findings from the Global Burden of Disease Study 2019","volume":"397","author":"GBD","year":"2021","journal-title":"Lancet."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0065","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/ajmg.a.30149","article-title":"Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation","volume":"129","author":"Macias-Gomez","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0070","doi-asserted-by":"crossref","DOI":"10.1016\/j.metabol.2021.154841","article-title":"Hearing loss in inherited metabolic disorders: a systematic review","volume":"122","author":"Trinh","year":"2021","journal-title":"Metabolism."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0075","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0378-5955(02)00609-3","article-title":"Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency","volume":"173","author":"Heller","year":"2002","journal-title":"Hear. Res."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0080","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-017-0585-5","article-title":"Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia","volume":"12","author":"Gr\u00fcnert","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ymgme.2022.09.005_bb0085","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/10372","article-title":"Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness","volume":"22","author":"Labay","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0090","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1001\/archneur.63.1.129","article-title":"Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency","volume":"63","author":"Sedel","year":"2006","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2022.09.005_bb0095","doi-asserted-by":"crossref","first-page":"816","DOI":"10.3109\/14992027.2013.840932","article-title":"Prevalence of hearing loss in patients with late-onset Pompe disease: audiological and otological consequences","volume":"52","author":"Hanisch","year":"2013","journal-title":"Int. J. Audiol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004012?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004012?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:52:44Z","timestamp":1761090764000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719222004012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S1096719222004012"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.09.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}