{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T01:04:00Z","timestamp":1787965440996,"version":"build-2784847793"},"reference-count":16,"publisher":"Bioscientifica","issue":"5","license":[{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,3,14]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of hypophosphatasia in children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Data from children (aged &lt;18 years) with hypophosphatasia were analyzed from the observational Global Hypophosphatasia Registry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Anthropometric parameters were evaluated by age group (&lt;2 years and \u22652 years) at assessment. The frequency of hypophosphatasia manifestations was compared between children with short stature (&lt; percentile) and those with normal stature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      This analysis included 215 children (54.4% girls). Short stature presented in 16.1% of children aged &lt;2 years and 20.4% of those aged \u22652 years at assessment. Among those with available data (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200962), height was below the target height (mean: \u22120.66 standard deviations). Substantial worsening of growth (mean delta height\n                      <jats:italic>z<\/jats:italic>\n                      score: \u22121.45; delta weight\n                      <jats:italic>z<\/jats:italic>\n                      score: \u22120.68) occurred before 2 years of age, while in those aged \u22652 years, anthropometric trajectories were maintained (delta height\n                      <jats:italic>z<\/jats:italic>\n                      score: 0.08; delta weight\n                      <jats:italic>z<\/jats:italic>\n                      score: 0.13). Broad-ranging hypophosphatasia manifestations (beyond dental) were observed in most children.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Short stature was not a consistent characteristic of children with hypophosphatasia, but growth impairment was observed in those aged &lt;2 years, indicating that hypophosphatasia might affect growth plate activity during infancy. In addition, a broad range of clinical manifestations occurred in those above and below the third percentile for height, suggesting that height alone may not accurately reflect hypophosphatasia disease burden and that weight is less affected than longitudinal growth.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-22-0240","type":"journal-article","created":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T10:54:05Z","timestamp":1678791245000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":16,"title":["Growth and disease burden in children with hypophosphatasia"],"prefix":"10.1530","volume":"12","author":[{"given":"Wolfgang","family":"H\u00f6gler","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria"},{"name":"Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"AP-HP, H\u00f4pital Bic\u00eatre Paris Saclay, service d\u2019endocrinologie et diab\u00e8te de l\u2019enfant, DMU 3 SEA, centre de r\u00e9f\u00e9rence des maladies rares du m\u00e9tabolisme du calcium et du phosphate, fili\u00e8re OSCAR; Universit\u00e9 de Paris-Saclay INSERM U1185, H\u00f4pital Bic\u00eatre, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Petryk","sequence":"additional","affiliation":[{"name":"Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Duke University Medical Center, Durham, North Carolina, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lothar","family":"Seefried","sequence":"additional","affiliation":[{"name":"University of W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shona","family":"Fang","sequence":"additional","affiliation":[{"name":"Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Rockman-Greenberg","sequence":"additional","affiliation":[{"name":"University of Manitoba, Winnipeg, Manitoba, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[{"name":"Osaka University, Suita, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Dahir","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, Tennessee, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel \u00c1ngel","family":"Martos-Moreno","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, IIS La Princesa, Universidad Aut\u00f3noma de Madrid, CIBERobn, ISCIII, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Nature Reviews. Endocrinology","first-page":"233","article-title":"Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment","volume":"12","author":"Whyte","year":"2016","unstructured":"Whyte MP. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nature Reviews. Endocrinology201612233\u2013246. (https:\/\/doi.org\/10.1038\/nrendo.2016.14)"},{"issue":"Supplement 2","key":"bib2","series-title":"Pediatric Endocrinology Reviews","first-page":"380","article-title":"Hypophosphatasia","volume":"10","author":"Rockman-Greenberg","year":"2013","unstructured":"Rockman-Greenberg C. Hypophosphatasia. Pediatric Endocrinology Reviews201310(Supplement 2) 380\u2013388."},{"key":"bib3","series-title":"Bone","first-page":"125","article-title":"Hypophosphatasia: natural history study of 101 affected children investigated at one research center","volume":"93","author":"Whyte","year":"2016","unstructured":"Whyte MPWenkert D & Zhang F. Hypophosphatasia: natural history study of 101 affected children investigated at one research center. Bone201693125\u2013138. (https:\/\/doi.org\/10.1016\/j.bone.2016.08.019)"},{"key":"bib4","series-title":"BMC Musculoskeletal Disorders","article-title":"Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry","volume":"20","author":"Hogler","year":"2019","unstructured":"Hogler WLangman CGomes da Silva HFang SLinglart AOzono KPetryk ARockman-Greenberg CSeefried L & Kishnani PS. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskeletal Disorders201920 80. (https:\/\/doi.org\/10.1186\/s12891-019-2420-8)"},{"key":"bib5","series-title":"Clinical Biochemist. Reviews","first-page":"13","article-title":"Hypophosphatasia: biological and clinical aspects, avenues for therapy","volume":"41","author":"Salles","year":"2020","unstructured":"Salles JP. Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clinical Biochemist. Reviews20204113\u201327. (https:\/\/doi.org\/10.33176\/AACB-19-00031)"},{"key":"bib6","series-title":"Orphanet Journal of Rare Diseases","article-title":"Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview","volume":"14","author":"Rush","year":"2019","unstructured":"Rush ETMoseley S & Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet Journal of Rare Diseases201914 201. (https:\/\/doi.org\/10.1186\/s13023-019-1167-5)"},{"key":"bib7","series-title":"Metabolism: Clinical and Experimental","first-page":"1522","article-title":"Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys","volume":"65","author":"Weber","year":"2016","unstructured":"Weber TJSawyer EKMoseley SOdrljin T & Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism: Clinical and Experimental2016651522\u20131530. (https:\/\/doi.org\/10.1016\/j.metabol.2016.07.006)"},{"key":"bib8","series-title":"Bone","article-title":"Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia","volume":"142","author":"Seefried","year":"2021","unstructured":"Seefried LKishnani PSMoseley SDenker AEWatsky EWhyte MP & Dahir KM. Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia. Bone2021142 115664. (https:\/\/doi.org\/10.1016\/j.bone.2020.115664)"},{"key":"bib9","series-title":"Vaccine","first-page":"6492","article-title":"G. Low birth weight: case definition & guidelines for data collection, analysis, and presentation of maternal immunization safety data","volume":"35","author":"Cutland","year":"2017","unstructured":"Cutland CLLackritz EMMallett-Moore TBardaji AChandrasekaran RLahariya CNisar MITapia MDPathirana JKochhar S, G. Low birth weight: case definition & guidelines for data collection, analysis, and presentation of maternal immunization safety data. Vaccine2017356492\u20136500. (https:\/\/doi.org\/10.1016\/j.vaccine.2017.01.049)"},{"key":"bib18","series-title":"2nd ed. Geneva, Switzerland: World Health Organization (WHO)","article-title":"Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10)","year":"2004","unstructured":"WHO. InternationalStatistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10), 2nd ed. Geneva, Switzerland: World Health Organization (WHO), 2004."},{"key":"bib11","article-title":"Z-score data files","unstructured":"CDC. Z-score data files. Atlanta, GA, USA: Centers for Disease Control and Prevention (CDC), National Center for Health Statistics, [epub]. (available at: https:\/\/www.cdc.gov\/growthcharts\/zscore.htm)"},{"key":"bib17","year":"[epub].","unstructured":"WHO. Child growth standards. Geneva, Switzerland: World Health Organization (WHO), [epub]. (available at: https:\/\/www.who.int\/tools\/child-growth-standards\/standards)"},{"key":"bib13","series-title":"Archives of Disease in Childhood","article-title":"Standards for Children's Height at Age 2 to 9 years allowing for height of Parents","volume":"45","author":"Tanner","year":"1970","unstructured":"Tanner JMGoldstein H & Whitehouse RH. Standards for Children's Height at Age 2 to 9 years allowing for height of Parents. Archives of Disease in Childhood197045 819. (https:\/\/doi.org\/10.1136\/adc.45.244.819-b)"},{"key":"bib14","series-title":"Child\u2019s Nervous System","first-page":"217","article-title":"Neurosurgical aspects of childhood hypophosphatasia","volume":"25","author":"Collmann","year":"2009","unstructured":"Collmann HMornet EGattenlohner SBeck C & Girschick H. Neurosurgical aspects of childhood hypophosphatasia. Child\u2019s Nervous System200925217\u2013223. (https:\/\/doi.org\/10.1007\/s00381-008-0708-3)"},{"key":"bib15","series-title":"Rheumatology International","first-page":"1315","article-title":"Whole-body MRI in the childhood form of hypophosphatasia","volume":"31","author":"Beck","year":"2011","unstructured":"Beck CMorbach HWirth CBeer M & Girschick HJ. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatology International2011311315\u20131320. (https:\/\/doi.org\/10.1007\/s00296-010-1493-3)"},{"key":"bib16","series-title":"Orphanet Journal of Rare Diseases","article-title":"Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry","volume":"17","author":"Dahir","year":"2022","unstructured":"Dahir KMSeefried LKishnani PSPetryk AHogler WLinglart AMartos-Moreno G\u00c1Ozono KFang S & Rockman-Greenberg C. Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry. Orphanet Journal of Rare Diseases202217 277. (https:\/\/doi.org\/10.1186\/s13023-022-02393-8)"}],"container-title":["Endocrine Connections"],"original-title":[],"link":[{"URL":"https:\/\/ec.bioscientifica.com\/view\/journals\/ec\/12\/5\/EC-22-0240.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/12\/5\/EC-22-0240.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ec.bioscientifica.com\/downloadpdf\/journals\/ec\/12\/5\/EC-22-0240.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:45:44Z","timestamp":1784555144000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/ec\/article\/1143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,14]]},"references-count":16,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/ec-22-0240","relation":{},"ISSN":["2049-3614"],"issn-type":[{"value":"2049-3614","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,14]]}}}