{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T03:57:03Z","timestamp":1792641423773,"version":"4.5.0"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2019-0162_s_999\">\n<jats:title id=\"d1913515e20820\">Background<\/jats:title>\n<jats:p>Mucolipidosis II \u03b1\/\u03b2 (ML II) is an autosomal recessive disease associated with the abnormality of lysosomal enzyme trafficking.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2019-0162_s_998\">\n<jats:title id=\"d1913515e20828\">Case presentation<\/jats:title>\n<jats:p>We present an unusual patient with: (a) marked skeletal anomalies with secondary hyperparathyroidism; (b) serum intact parathyroid hormone level normalized by 7 weeks but abnormally elevated serum alkaline phosphate persisted; and (c) two mutations identified in the <jats:italic>GNPTAB<\/jats:italic> gene. One mutation, c.3503_3504delTC, is the most common mutation in ML II. However, the second mutation, c.2896delA, is a rare mutation for which clinical presentation has not been described previously.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2019-0162","type":"journal-article","created":{"date-parts":[[2019,11,23]],"date-time":"2019-11-23T09:02:46Z","timestamp":1574499766000},"page":"1399-1402","source":"Crossref","is-referenced-by-count":5,"title":["A neonate with mucolipidosis II and transient secondary hyperparathyroidism"],"prefix":"10.1515","volume":"32","author":[{"given":"Carlos","family":"Leyva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Buch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaas","family":"J. Wierenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Berkovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tossaporn","family":"Seeherunvong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref51","doi-asserted-by":"crossref","first-page":"36141","DOI":"10.1074\/jbc.M509008200","article-title":"The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA","volume":"280","year":"2005","journal-title":"J Biol Chem"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal","volume":"12","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"31437","DOI":"10.1074\/jbc.271.49.31437","article-title":"Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 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Purification and subunit structure","volume":"271","year":"1996","journal-title":"J Biol Chem"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","year":"1999","journal-title":"Hum Genet"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/s00431-004-1591-x","article-title":"Mucolipidosis II presenting as severe neonatal hyperparathyroidism","volume":"164","year":"2005","journal-title":"Eur J Pediatr"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1172\/JCI5826","article-title":"Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)","volume":"105","year":"2000","journal-title":"J Clin Invest"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1172\/JCI5826","article-title":"Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)","volume":"105","year":"2000","journal-title":"J Clin Invest"},{"key":"ref91","first-page":"842","article-title":"The lysosomal storage disorders mucolipidosis type II, type III alpha\/beta and type III gamma: update on GNPTAB and GNPTG mutations","volume":"40","year":"2019","journal-title":"Hum Mutat"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"31437","DOI":"10.1074\/jbc.271.49.31437","article-title":"Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 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Purification and subunit structure","volume":"271","year":"1996","journal-title":"J Biol Chem"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","year":"1999","journal-title":"Hum Genet"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/s00431-004-1591-x","article-title":"Mucolipidosis II presenting as severe neonatal hyperparathyroidism","volume":"164","year":"2005","journal-title":"Eur J Pediatr"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal","volume":"12","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"ref01","first-page":"842","article-title":"The lysosomal storage disorders mucolipidosis type II, type III alpha\/beta and type III gamma: update on GNPTAB and GNPTG mutations","volume":"40","year":"2019","journal-title":"Hum Mutat"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"438","DOI":"10.3345\/kjp.2012.55.11.438","article-title":"A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth","volume":"55","year":"2012","journal-title":"Korean J Pediatr"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"36141","DOI":"10.1074\/jbc.M509008200","article-title":"The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA","volume":"280","year":"2005","journal-title":"J Biol Chem"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"438","DOI":"10.3345\/kjp.2012.55.11.438","article-title":"A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth","volume":"55","year":"2012","journal-title":"Korean J Pediatr"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2019.32.issue-12\/jpem-2019-0162\/jpem-2019-0162.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2019-0162\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:45:58Z","timestamp":1619055958000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2019-0162\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,18]]},"references-count":16,"journal-issue":{"issue":"12"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2019-0162","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12,18]]}}}