{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:14:19Z","timestamp":1791429259315,"version":"4.3.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"23-24","license":[{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Kyowa Kirin"},{"DOI":"10.13039\/100004325","name":"AstraZeneca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005788","name":"Medical University of Vienna","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005788","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Wien Klin Wochenschr"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Accurate diagnosis of many pediatric disorders relies on age-specific laboratory reference ranges. This is particularly important for rare disorders such as X\u2011linked hypophosphatemia (XLH) and hypophosphatasia (HPP), which present with decreases in serum phosphate and alkaline phosphatase (ALP), respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study evaluated the use of pediatric reference ranges among Austrian medical laboratories.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A\u00a0comprehensive list of all extramural clinical laboratories was compiled. A\u00a0standardized serum sample with pathological values for a\u00a04-year-old child was dispatched to 26\u00a0extramural laboratories. The returned absolute and stated reference values were assessed and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 22\u00a0responding laboratories, 18.2% used appropriate pediatric reference ranges for serum phosphate and 40.9% for ALP. In total, 54.5 and 36.4% of laboratories identified the sample as normal for serum phosphate or ALP, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Despite accurate absolute value measurements, the majority of laboratories failed to identify the test sample as pathologic. In a\u00a0real-world setting, the results obtained could lead to significant diagnostic delays and missed diagnoses in pediatric patients. The lack of regulatory requirements for pediatric-specific reference ranges in Austria and most European countries contributes to this problem. The study highlights the need for standardization and mandatory implementation of pediatric reference ranges to improve diagnostic accuracy for rare pediatric disorders across Europe.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00508-025-02546-2","type":"journal-article","created":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T08:26:32Z","timestamp":1747643192000},"page":"764-767","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria"],"prefix":"10.1007","volume":"137","author":[{"given":"Jojo","family":"Steininger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Jablonska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Sagmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Mindler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3551-594X","authenticated-orcid":false,"given":"Adalbert","family":"Raimann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,19]]},"reference":[{"key":"2546_CR1","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1080\/10408363.2017.1379945","volume":"54","author":"K Adeli","year":"2017","unstructured":"Adeli\u00a0K, Higgins\u00a0V, Trajcevski\u00a0K, White-Al Habeeb\u00a0N. The canadian laboratory initiative on pediatric reference intervals: a\u00a0CALIPER white paper. Crit Rev Clin Lab Sci. 2017;54:358\u2013413.","journal-title":"Crit Rev Clin Lab Sci"},{"key":"2546_CR2","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/j.clinbiochem.2019.08.010","volume":"73","author":"S Asgari","year":"2019","unstructured":"Asgari\u00a0S, Higgins\u00a0V, McCudden\u00a0C, Adeli\u00a0K. Continuous reference intervals for 38 biochemical markers in healthy children and adolescents: comparisons to traditionally partitioned reference intervals. Clin Biochem. 2019;73:82\u20139.","journal-title":"Clin Biochem"},{"key":"2546_CR3","doi-asserted-by":"crossref","unstructured":"H\u00f6gler W, Langman C, Gomes da Silva H, Fang S, Linglart A, Ozono K, et\u00a0al. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a\u00a0longitudinal, prospective, global registry. BMC musculoskelet disord. 2019. https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6376686\/. Accessed 18 Jan 2020.","DOI":"10.1186\/s12891-019-2420-8"},{"key":"2546_CR4","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1093\/jbmr\/zjae098","volume":"39","author":"MP Whyte","year":"2024","unstructured":"Whyte\u00a0MP, McAlister\u00a0WH, Mack\u00a0KE, Mumm\u00a0S, Madson\u00a0KL. Pediatric hypophosphatasia: avoid diagnosis missteps! J\u00a0Bone Miner Res. 2024;39:655\u201360.","journal-title":"J Bone Miner Res"},{"key":"2546_CR5","unstructured":"Bundesministerium f\u00fcr Soziales, Gesundheit, Pflege und Konsumentenschutz (BMSGPK) https:\/\/www.sozialministerium.at. Accessed 18 Dec 2024."},{"key":"2546_CR6","unstructured":"\u00d6sterreichische Gesundheitskasse. Med. Labordiagnostik https:\/\/www.gesundheitskasse.at\/cdscontent\/?contentid=10007.882483. Accessed 18 Dec 2024."},{"key":"2546_CR7","unstructured":"CALIPER. https:\/\/caliper.research.sickkids.ca\/#\/. Accessed 18 Dec 2024."},{"key":"2546_CR8","unstructured":"llama3.1:405b. https:\/\/ollama.com\/llama3.1:405b. Accessed 18 Dec 2024."},{"key":"2546_CR9","doi-asserted-by":"crossref","unstructured":"Charney AN, Dourmashkin JT. Interpreting clinical and laboratory tests: importance and implications of context. Diagnosis. 2019; dx-2019\u20139.","DOI":"10.1515\/dx-2019-0009"},{"key":"2546_CR10","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.clinbiochem.2017.03.024","volume":"50","author":"F Ceriotti","year":"2017","unstructured":"Ceriotti\u00a0F. Quality specifications for the extra-analytical phase of laboratory testing: reference intervals and decision limits. Clin Biochem. 2017;50:595\u20138.","journal-title":"Clin Biochem"}],"container-title":["Wiener klinische Wochenschrift"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00508-025-02546-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00508-025-02546-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00508-025-02546-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T09:36:35Z","timestamp":1765964195000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00508-025-02546-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,19]]},"references-count":10,"journal-issue":{"issue":"23-24","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["2546"],"URL":"https:\/\/doi.org\/10.1007\/s00508-025-02546-2","relation":{},"ISSN":["0043-5325","1613-7671"],"issn-type":[{"value":"0043-5325","type":"print"},{"value":"1613-7671","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,19]]},"assertion":[{"value":"21 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This project has been supported by research grants by Kyowa Kirin and Alexion, AstraZeneca Rare Disease. A.\u00a0Raimann and G.\u00a0Mindler received consulting and lecturing fees from Alexion, Biomarin, Kyowa Kirin. A.\u00a0Raimann received lecturing fees from Swixx BioPharma and unrelated project funding from Kyowa Kirin. G.\u00a0Mindler received travel funds and conference fee support from Newclip. J.\u00a0Steininger, M.\u00a0Jablonska and S.\u00a0Sagmeister declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}