{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T03:41:36Z","timestamp":1778902896157,"version":"3.51.4"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.561054","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T07:29:21Z","timestamp":1602055761000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report"],"prefix":"10.3389","volume":"11","author":[{"given":"Katerina","family":"Slaba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Noskova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Vesela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Tuckova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Jicinska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Honzik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Kleiblova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Stourac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Jabandziev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ondrej","family":"Slaby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"Prochazkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1002\/jimd.12024","article-title":"International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up.","volume":"42","author":"Altassan","year":"2019","journal-title":"J. Inherit. Metab. Dis"},{"key":"B2","doi-asserted-by":"crossref","DOI":"10.21037\/atm.2018.10.45","article-title":"Congenital disorders of glycosylation.","volume":"6","author":"Chang","year":"2018","journal-title":"Ann. Transl. Med"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19082218","article-title":"The analysis of variants in the general population reveals that PMM2 is extremely tolerant to missense mutations and that diagnosis of PMM2-CDG can benefit from the identification of modifiers.","volume":"19","author":"Citro","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgme.2018.11.003","article-title":"The challenge of CDG diagnosis.","volume":"126","author":"Francisco","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"B5","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.pediatrneurol.2004.06.021","article-title":"Underdiagnosis of mild congenital disorders of glycosylation type Ia.","volume":"32","author":"Giurgea","year":"2005","journal-title":"Pediatr. Neurol"},{"key":"B6","first-page":"652","article-title":"A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.","volume":"24","author":"Isikay","year":"2014","journal-title":"Iran. J. Pediatr."},{"key":"B7","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1038\/sj.ejhg.5200398","article-title":"Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.","volume":"7","author":"Kjaergaard","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1023\/a:1005387408009","article-title":"The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).","volume":"21","author":"Kristiansson","year":"1998","journal-title":"J. Inherit. Metab. Dis"},{"key":"B9","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ng0597-88","article-title":"Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).","volume":"16","author":"Matthijs","year":"1997","journal-title":"Nat. Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1002\/1098-1004(200011)16:5<386::aid-humu2>3.0.co;2-y","article-title":"Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).","volume":"16","author":"Matthijs","year":"2000","journal-title":"Hum. Mutat"},{"key":"B11","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.ejmg.2017.10.012","article-title":"Congenital disorders of glycosylation (CDG): quo vadis?","volume":"61","author":"Peanne","year":"2018","journal-title":"Eur. J. Med. Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med"},{"key":"B13","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/sj.ejhg.5200470","article-title":"Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).","volume":"8","author":"Schollen","year":"2000","journal-title":"Eur. J. Hum. Genet"},{"key":"B14","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-015-0358-y","article-title":"Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.","volume":"10","author":"Serrano","year":"2015","journal-title":"Orphanet J. Rare Dis"},{"key":"B15","doi-asserted-by":"publisher","first-page":"14918","DOI":"10.1074\/jbc.m601505200","article-title":"The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.","volume":"281","author":"Silvaggi","year":"2006","journal-title":"J. Biol. Chem"},{"key":"B16","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.ymgme.2008.05.005","article-title":"Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.","volume":"94","author":"Truin","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"B17","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/8904_2017_41","article-title":"The prevalence of PMM2 CDG in estonia based on population carrier frequencies and diagnosed patients.","volume":"39","author":"Vals","year":"2018","journal-title":"JIMD Rep."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.561054\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T07:29:23Z","timestamp":1602055763000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.561054\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,7]]},"references-count":17,"alternative-id":["10.3389\/fgene.2020.561054"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.561054","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,7]]},"article-number":"561054"}}