{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:40Z","timestamp":1761102220566},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha\/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the<\/jats:p>","DOI":"10.1515\/jpem-2016-0173","type":"journal-article","created":{"date-parts":[[2016,10,6]],"date-time":"2016-10-06T07:53:40Z","timestamp":1475740420000},"source":"Crossref","is-referenced-by-count":4,"title":["Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha\/beta"],"prefix":"10.1515","volume":"29","author":[{"given":"Maria Francisca","family":"Coutinho","sequence":"first","affiliation":[]},{"given":"Marisa","family":"Encarna\u00e7\u00e3o","sequence":"additional","affiliation":[]},{"given":"Francisco","family":"Laranjeira","sequence":"additional","affiliation":[]},{"given":"L\u00facia","family":"Lacerda","sequence":"additional","affiliation":[]},{"given":"Maria Jo\u00e3o","family":"Prata","sequence":"additional","affiliation":[]},{"given":"Sandra","family":"Alves","sequence":"additional","affiliation":[]}],"member":"374","reference":[{"key":"ref101","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1111\/j.1471-8286.2005.01002.x","article-title":"Locus effects and sources of error in noninvasive genotyping","volume":"5","year":"2005","journal-title":"Mol Ecol Notes"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.bbamcr.2008.10.016","article-title":"Sorting of lysosomal proteins","volume":"1793","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1399-0004.2009.01185.x","article-title":"Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III \u2013 identification of eight novel mutations","volume":"76","year":"2009","journal-title":"Clin 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