{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T03:33:21Z","timestamp":1790134401656,"version":"4.0.1"},"reference-count":19,"publisher":"Korean Society of Pediatric Endocrinology","issue":"4","license":[{"start":{"date-parts":[[2023,12,31]],"date-time":"2023-12-31T00:00:00Z","timestamp":1703980800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2023,12,31]]},"abstract":"<jats:p>Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP. A 3 \u00bd-year-old boy presented with short stature, transient hypercalcemia, and mild gait disturbance without definite bony deformity. Laboratory examination revealed transient hypercalcemia, normal phosphorous and 25-hydroxy vitamin D levels, and mildly low alkaline phosphatase levels. A targeted next-generation sequencing panel associated with inborn errors of metabolism revealed a pathogenic heterozygous mutation in the &lt;i&gt;ALPL&lt;\/i&gt; gene, c.979T&gt;C (p.Phe327Leu). When a child visits a hospital with short stature, decreased height velocity, and low alkaline phosphatase level, clinicians should consider the possibility of HPP even if definite skeletal dysplasia is not evident.<\/jats:p>","DOI":"10.6065\/apem.2244294.147","type":"journal-article","created":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T09:01:56Z","timestamp":1703581316000},"page":"312-317","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia"],"prefix":"10.6065","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0870-2042","authenticated-orcid":true,"given":"Donghyun","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9220-5104","authenticated-orcid":true,"given":"So Yun","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2937-0844","authenticated-orcid":true,"given":"Heung Sik","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1335-9923","authenticated-orcid":true,"given":"Seokjin","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4096","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2017.08.013"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m114.576843"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.2001.281.1.c1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.14"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2015.02.022"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-305037"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232112976"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.177741"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.02.011"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/tmi.12580"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2013.04.001"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1612-9"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.473"},{"key":"ref14","volume-title":"","author":"Thakker","year":"2017"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-018-4239-0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-019-00626-w"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0222931"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.4.624"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3462"}],"container-title":["Annals of Pediatric Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2244294-147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2244294.147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2244294-147.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T09:02:57Z","timestamp":1703581377000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2244294.147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,31]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.6065\/apem.2244294.147","relation":{},"ISSN":["2287-1012","2287-1292"],"issn-type":[{"value":"2287-1012","type":"print"},{"value":"2287-1292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,31]]},"assertion":[{"value":"2022-12-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-31","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-31","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}