{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:20:53Z","timestamp":1765887653425,"version":"build-2065373602"},"reference-count":15,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["aacejournalendocrinepractice.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrine Practice"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.4158\/ep14083.cr","type":"journal-article","created":{"date-parts":[[2014,8,12]],"date-time":"2014-08-12T21:59:07Z","timestamp":1407880747000},"page":"e198-e201","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Childhood Hypophosphatasia With Homozygous Mutation of ALPL"],"prefix":"10.1016","volume":"20","author":[{"given":"Supamit","family":"Ukarapong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shankar Srinivas","family":"Ganapathy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Haidet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary","family":"Berkovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.4158\/EP14083.CR_bb0005","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"5313","article-title":"Hypophosphatasia","author":"Whyte","year":"2001"},{"key":"10.4158\/EP14083.CR_bb0010","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/8904_2013_224","article-title":"Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis","volume":"11","author":"Leung","year":"2013","journal-title":"JIMD reports."},{"key":"10.4158\/EP14083.CR_bb0015","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1056\/NEJMoa1106173","article-title":"Enzymereplacement therapy in life-threatening hypophosphatasia","volume":"366","author":"Whyte","year":"2012","journal-title":"N Engl J Med."},{"key":"10.4158\/EP14083.CR_bb0020","series-title":"Fundamentals of Pediatric Radiology","first-page":"171","article-title":"Musculoskeletal System","author":"Donnelly","year":"2001"},{"key":"10.4158\/EP14083.CR_bb0025","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-2-40","volume":"2","author":"Mornet","year":"2007","journal-title":"Hypophosphatasia. Orphanet J Rare Dis."},{"key":"10.4158\/EP14083.CR_bb0030","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1471-2350-10-51","article-title":"Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles","volume":"10","author":"Fauvert","year":"2009","journal-title":"BMC Med Genet."},{"key":"10.4158\/EP14083.CR_bb0035","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/archdischild-2013-305037","article-title":"Clinical and genetic aspects of hypophosphatasia in Japanese patients","volume":"99","author":"Taketani","year":"2014","journal-title":"Arc Dis Child."},{"key":"10.4158\/EP14083.CR_bb0040","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s00431-012-1868-4","article-title":"Infantile loss of teeth: odontohypo-phosphatasia or childhood hypophosphatasia","volume":"172","author":"Haliloglu","year":"2013","journal-title":"Eur J Pediatr."},{"key":"10.4158\/EP14083.CR_bb0045","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1007\/s00296-010-1493-3","article-title":"Whole-body MRI in the childhood form of hypophosphatasia","volume":"31","author":"Beck","year":"2011","journal-title":"Rheumatol Int."},{"key":"10.4158\/EP14083.CR_bb0050","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1359\/jbmr.090308","article-title":"Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia","volume":"24","author":"Whyte","year":"2009","journal-title":"J Bone Miner Res."},{"key":"10.4158\/EP14083.CR_bb0055","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.bone.2013.12.009","article-title":"Perinatal hypophosphatasia caused by uniparental isodisomy","volume":"60","author":"Watanabe","year":"2014","journal-title":"Bone."},{"key":"10.4158\/EP14083.CR_bb0060","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s00774-011-0282-8","article-title":"Novel heterozygous tissue- nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia","volume":"30","author":"Chang","year":"2012","journal-title":"J Bone Miner Metab."},{"key":"10.4158\/EP14083.CR_bb0065","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1210\/jcem.85.2.6373","article-title":"Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme","volume":"85","author":"Muller","year":"2000","journal-title":"J Clin Endocrinol Metab."},{"key":"10.4158\/EP14083.CR_bb0070","doi-asserted-by":"crossref","first-page":"31171","DOI":"10.1074\/jbc.M102788200","article-title":"Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization","volume":"276","author":"Mornet","year":"2001","journal-title":"J Biol Chem."},{"key":"10.4158\/EP14083.CR_bb0075","article-title":"Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia","volume":"26","author":"Hofmann","year":"2014","journal-title":"Eur J Hum Genet."}],"container-title":["Endocrine Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X20421081?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1530891X20421081?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/aace.metapress.com\/index\/E051H87725QH407R.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:57:56Z","timestamp":1761515876000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1530891X20421081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S1530891X20421081"],"URL":"https:\/\/doi.org\/10.4158\/ep14083.cr","relation":{},"ISSN":["1530-891X"],"issn-type":[{"type":"print","value":"1530-891X"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Childhood Hypophosphatasia With Homozygous Mutation of ALPL","name":"articletitle","label":"Article Title"},{"value":"Endocrine Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/EP14083.CR","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}