{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T16:47:11Z","timestamp":1772556431735,"version":"3.50.1"},"reference-count":15,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ymgme.2023.107702","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T01:25:00Z","timestamp":1695691500000},"page":"107702","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue"],"prefix":"10.1016","volume":"140","author":[{"given":"Alina","family":"Kurolap","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalit","family":"Barel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nava","family":"Shaul Lotan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaiah","family":"Wexler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chofit","family":"Chai Gadot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adi","family":"Mory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shlomo","family":"Almashanu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit","family":"Baris Feldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.ymgme.2023.107702_bb0005","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1038\/s41436-021-01173-2","article-title":"Severity modeling of propionic acidemia using clinical and laboratory biomarkers","volume":"23","author":"Shchelochkov","year":"2021","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2023.107702_bb0010","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.ymgme.2017.10.002","article-title":"Propionyl-CoA carboxylase \u2013 a review","volume":"122","author":"Wongkittichote","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107702_bb0015","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/jimd.12370","article-title":"Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision","volume":"44","author":"Forny","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2023.107702_bb0020","first-page":"100757","article-title":"Long term follow-up of the dietary intake in propionic acidemia","volume":"27","author":"Mobarak","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"July","key":"10.1016\/j.ymgme.2023.107702_bb0025","first-page":"100936","article-title":"Natural history of propionic acidemia in the Amish population","volume":"33","author":"Ehrenberg","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107702_bb0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3390\/ijns8010013","article-title":"Screening for Methylmalonic and propionic Acidemia: clinical outcomes and follow-up recommendations","volume":"8","author":"Held","year":"2022","journal-title":"Int. J. Neonatal. Screen."},{"issue":"10","key":"10.1016\/j.ymgme.2023.107702_bb0035","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1515\/jpem-2022-0340","article-title":"Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns","volume":"35","author":"Mart\u00edn-Rivada","year":"2022","journal-title":"J. Pediatr. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107702_bb0050","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"9","key":"10.1016\/j.ymgme.2023.107702_bb0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107702_bb0060","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.jpeds.2013.07.028","article-title":"Genomics in newborn screening","volume":"164","author":"Landau","year":"2014","journal-title":"J. Pediatr."},{"issue":"8","key":"10.1016\/j.ymgme.2023.107702_bb0065","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22084154","article-title":"Functional analysis of the pcca and pccb gene variants predicted to affect splicing","volume":"22","author":"Bychkov","year":"2021","journal-title":"Int. J. Mol. Sci."},{"issue":"6","key":"10.1016\/j.ymgme.2023.107702_bb0070","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1086\/522376","article-title":"Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA","volume":"81","author":"Rinc\u00f3n","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2023.107702_bb0075","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1007\/s40142-020-00195-7","article-title":"Utility of RNA sequencing analysis in the context of genetic testing","volume":"8","author":"Tahiliani","year":"2020","journal-title":"Curr. Genet. Med. Rep."},{"issue":"July","key":"10.1016\/j.ymgme.2023.107702_bb0080","article-title":"Integrated multi-omics for rapid rare disease diagnosis on a national scale","volume":"29","author":"Lunke","year":"2023","journal-title":"Nat. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107702_bb0085","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1038\/s41436-019-0672-1","article-title":"Kai, et al. diagnostic utility of transcriptome sequencing for rare Mendelian diseases","volume":"22","author":"Lee","year":"2020","journal-title":"Genet. Med."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223003323?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223003323?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:14:52Z","timestamp":1735233292000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719223003323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S1096719223003323"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107702","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107702","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107702"}}