{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:50Z","timestamp":1790679230363,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["RF2011-02347694"],"award-info":[{"award-number":["RF2011-02347694"]}]},{"name":"Genzyme a Sanofi Company","award":["20100_M8913"],"award-info":[{"award-number":["20100_M8913"]}]},{"name":"Fondazione Meyer ONLUS, Firenze, Italia"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1016\/j.cca.2015.10.027","type":"journal-article","created":{"date-parts":[[2015,11,1]],"date-time":"2015-11-01T09:46:32Z","timestamp":1446371192000},"page":"82-86","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"special_numbering":"C","title":["Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease"],"prefix":"10.1016","volume":"452","author":[{"given":"Lorenzo","family":"Ferri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catia","family":"Cavicchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Parini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2015.10.027_bb0005","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3733","article-title":"\u03b1-Galactosidase A deficiency: Fabry disease","volume":"2001","author":"Desnick","year":"2001"},{"key":"10.1016\/j.cca.2015.10.027_bb0010","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1006\/geno.1994.1010","article-title":"A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22","volume":"19","author":"Vetrie","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.cca.2015.10.027_bb0015","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/BF01606034","article-title":"Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy","volume":"417","author":"Elleder","year":"1990","journal-title":"Virchows Arch. A Pathol. Anat. Histopathol."},{"key":"10.1016\/j.cca.2015.10.027_bb0020","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1056\/NEJM200107053450104","article-title":"Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy","volume":"345","author":"Frustaci","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2015.10.027_bb0025","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.cca.2015.10.027_bb0030","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"10.1016\/j.cca.2015.10.027_bb0035","article-title":"X chromosome inactivation in female patients with Fabry disease","author":"Echevarria","year":"2015","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2015.10.027_bb0040","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: identification of 50 novel alpha-galactosidase a mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations","volume":"2","author":"Shabbeer","year":"2006","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.cca.2015.10.027_bb0045","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/ckj\/sfs115","article-title":"Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene","volume":"5","author":"Lukas","year":"2012","journal-title":"Clin. Kidney J."},{"key":"10.1016\/j.cca.2015.10.027_bb0050","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.ymgme.2012.01.012","article-title":"A quantitative-PCR protocol rapidly detects alphaGAL deletions\/duplications in patients with Anderson\u2013Fabry disease","volume":"105","author":"Marziliano","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2015.10.027_bb0055","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymgme.2008.03.017","article-title":"Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)","volume":"94","author":"Schirinzi","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2015.10.027_bb0060","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.jjcc.2010.12.004","article-title":"Identification of novel mutations in the alpha-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low alpha-galactosidase A activity","volume":"57","author":"Yoshimitsu","year":"2011","journal-title":"J. Cardiol."},{"key":"10.1016\/j.cca.2015.10.027_bb0065","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/humu.21474","article-title":"Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel alpha-galactosidase A (GLA) deletions causing Fabry disease","volume":"32","author":"Dobrovolny","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2015.10.027_bb0070","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.ymgme.2011.05.008","article-title":"Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a \u201csequencing cryptic\u201d alpha-galactosidase a large deletion","volume":"104","author":"Feldt-Rasmussen","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2015.10.027_bb0075","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1038\/ejhg.2008.109","article-title":"Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease","volume":"16","author":"Filoni","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2015.10.027_bb0080","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/339431","article-title":"Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype","volume":"70","author":"Ishii","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2015.10.027_bb0085","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/nar\/17.8.3301","article-title":"Nucleotide sequence of the human alpha-galactosidase A gene","volume":"17","author":"Kornreich","year":"1989","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cca.2015.10.027_bb0090","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/8904_2012_125","article-title":"Integration of PCR-sequencing analysis with Multiplex Ligation-dependent Probe Amplification for diagnosis of hereditary fructose intolerance","volume":"6","author":"Ferri","year":"2012","journal-title":"JIMD Rep."},{"issue":"4","key":"10.1016\/j.cca.2015.10.027_bb0095","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/cge.12297","article-title":"Aminoacylase I deficiency due to ACY1 mRNA exon skipping","volume":"86","author":"Ferri","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2015.10.027_bb0100","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2015.50","article-title":"Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome","author":"Ferri","year":"2015","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115300309?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115300309?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,18]],"date-time":"2018-09-18T04:25:45Z","timestamp":1537244745000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898115300309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":20,"alternative-id":["S0009898115300309"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2015.10.027","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2015.10.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}