{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T04:50:13Z","timestamp":1743742213034,"version":"3.37.3"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Radiol"],"DOI":"10.1007\/s00247-022-05503-7","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T08:04:14Z","timestamp":1663833854000},"page":"561-563","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy"],"prefix":"10.1007","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3413-2792","authenticated-orcid":false,"given":"Eduarda","family":"Pinto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0801-1153","authenticated-orcid":false,"given":"Catarina","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 E.","family":"Alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"5503_CR1","doi-asserted-by":"publisher","first-page":"2734","DOI":"10.1038\/s41436-019-0595-x","volume":"21","author":"VG Peter","year":"2019","unstructured":"Peter VG, Quinodoz M, Pinto-Basto J et al (2019) The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genet Med 21:2734\u20132743","journal-title":"Genet Med"},{"key":"5503_CR2","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3109\/13816818609004132","volume":"7","author":"RM Liberfarb","year":"1986","unstructured":"Liberfarb RM, Katsumi O, Fleischnick E et al (1986) Tapetoretinal degeneration associated with multisystem abnormalities. A case report. Ophthalmic Paediatr Genet 7:151\u2013158","journal-title":"Ophthalmic Paediatr Genet"},{"key":"5503_CR3","doi-asserted-by":"publisher","first-page":"e201900353","DOI":"10.26508\/lsa.201900353","volume":"2","author":"T Zhao","year":"2019","unstructured":"Zhao T, Goedhart CM, Sam PN et al (2019) PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. Life Sci Alliance 2:e201900353","journal-title":"Life Sci Alliance"},{"key":"5503_CR4","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1002\/humu.23693","volume":"40","author":"KM Girisha","year":"2019","unstructured":"Girisha KM, von Elsner L, Neethukrishna K et al (2019) The homozygous variant c.797G>A\/p. (Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Hum Mutat 40:299\u2013309","journal-title":"Hum Mutat"},{"key":"5503_CR5","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","volume":"72","author":"R Schiffmann","year":"2009","unstructured":"Schiffmann R, van der Knaap MS (2009) Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72:750\u2013759","journal-title":"Neurology"},{"key":"5503_CR6","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.3174\/ajnr.A2542","volume":"32","author":"C Garel","year":"2011","unstructured":"Garel C, Cont I, Alberti C, Josserand E et al (2011) Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol 32:1436\u20131443","journal-title":"AJNR Am J Neuroradiol"}],"container-title":["Pediatric Radiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-022-05503-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00247-022-05503-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-022-05503-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T02:02:45Z","timestamp":1677463365000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00247-022-05503-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,22]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["5503"],"URL":"https:\/\/doi.org\/10.1007\/s00247-022-05503-7","relation":{},"ISSN":["1432-1998"],"issn-type":[{"type":"electronic","value":"1432-1998"}],"subject":[],"published":{"date-parts":[[2022,9,22]]},"assertion":[{"value":"14 June 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 August 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 September 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}