{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:29:54Z","timestamp":1790908194642,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.jpeds.2012.09.050","type":"journal-article","created":{"date-parts":[[2012,11,6]],"date-time":"2012-11-06T05:31:09Z","timestamp":1352179869000},"page":"844-849","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Hypoplastic Anemia in Cartilage-Hair Hypoplasia\u2014Balancing between Iron Overload and Chelation"],"prefix":"10.1016","volume":"162","author":[{"given":"Mervi","family":"Taskinen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanna","family":"Toiviainen-Salo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouko","family":"Lohi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pentti","family":"Vuolukka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Gr\u00e4sbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2012.09.050_bib1","first-page":"285","article-title":"Dwarfism in the Amish II. Cartilage-hair hypoplasia","volume":"116","author":"McKusick","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"10.1016\/j.jpeds.2012.09.050_bib2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01956147","article-title":"Cartilage-hair hypoplasia clinical manifestations in 108 Finnish patients","volume":"152","author":"M\u00e4kitie","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib3","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia","volume":"104","author":"Ridanp\u00e4\u00e4","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.jpeds.2012.09.050_bib4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF00209394","article-title":"Genetic homogeneity of cartilage-hair hypoplasia","volume":"95","author":"Sulisalo","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2012.09.050_bib5","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1136\/jmg.29.9.652","article-title":"Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients","volume":"29","author":"M\u00e4kitie","year":"1992","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2012.09.050_bib6","first-page":"352","article-title":"In\u00a0vitro T and B cell reactivity in cartilage-hair hypoplasia","volume":"32","author":"Ranki","year":"1978","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.jpeds.2012.09.050_bib7","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1067\/mpd.2000.108102","article-title":"Deficiency of humoral immunity in cartilage-hair hypoplasia","volume":"137","author":"M\u00e4kitie","year":"2000","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib8","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1067\/mpd.2001.113632","article-title":"Hirschsprung disease associated with severe cartilage-hair hypoplasia","volume":"138","author":"M\u00e4kitie","year":"2001","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib9","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ajmg.a.30902","article-title":"The natural history of severe anemia in cartilage-hair hypoplasia","volume":"138","author":"Williams","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2012.09.050_bib10","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1007\/BF01972969","article-title":"Defective in\u00a0vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia","volume":"154","author":"Juvonen","year":"1995","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib11","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/hep.510240201","article-title":"An algorithm for the grading of activity in chronic hepatitis C","volume":"24","author":"Bedossa","year":"1996","journal-title":"Hepatology"},{"key":"10.1016\/j.jpeds.2012.09.050_bib12","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/adc.86.5.344","article-title":"Liver disease in transfusion-dependent thalassemia major","volume":"86","author":"Li","year":"2002","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2012.09.050_bib13","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1053\/euhj.2001.2822","article-title":"Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload","volume":"22","author":"Anderson","year":"2001","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jpeds.2012.09.050_bib14","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1203\/00006450-199202000-00018","article-title":"Growth in cartilage-hair hypoplasia","volume":"31","author":"M\u00e4kitie","year":"1992","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jpeds.2012.09.050_bib15","first-page":"563","article-title":"Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system","volume":"85","author":"M\u00e4kitie","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2012.09.050_bib16","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1046\/j.1365-2141.2001.03195.x","article-title":"Practical management of iron overload","volume":"115","author":"Porter","year":"2001","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2012.09.050_bib17","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1046\/j.1537-2995.1997.37297203514.x","article-title":"A moderate transfusion regimen may reduce iron loading in beta-thalassemia major without producing excessive expansion in erythropoiesis","volume":"37","author":"Cazzola","year":"1997","journal-title":"Transfusion"},{"key":"10.1016\/j.jpeds.2012.09.050_bib18","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/ki.2010.217","article-title":"Erythropoietin regulates intestinal iron absorption in a rat model of chronic renal failure","volume":"78","author":"Srai","year":"2010","journal-title":"Kidney Int"},{"key":"10.1016\/j.jpeds.2012.09.050_bib19","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1111\/j.1600-0609.2011.01660.x","article-title":"Response of iron overload to deferasirox in rare transfusion-dependent anemias: equivalent effects on serum ferritin and labile plasma iron for hemolytic or production anemias","volume":"87","author":"Porter","year":"2011","journal-title":"Eur J Haematol"},{"key":"10.1016\/j.jpeds.2012.09.050_bib20","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/j.1365-2141.2006.06332.x","article-title":"Increased prevalence of iron-overload associated endocrinopathy in thalassemia vs sickle-cell disease","volume":"135","author":"Fung","year":"2006","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2012.09.050_bib21","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1515\/jpem-2006-190404","article-title":"Impact of long-term iron chelation therapy on growth and endocrine functions in thalassemia","volume":"19","author":"De Sanctis","year":"2006","journal-title":"J Ped Endocrinol"},{"key":"10.1016\/j.jpeds.2012.09.050_bib22","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/S0022-3476(88)80375-5","article-title":"Desferrioxamine-induced growth retardation in patients with thalassemia major","volume":"113","author":"De Virgillis","year":"1988","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib23","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/BF01955263","article-title":"Growth and development in thalassemia major patients with severe bone lesions due to desferrioxamine","volume":"155","author":"DeSanctis","year":"1996","journal-title":"Eur J Paediatr"},{"key":"10.1016\/j.jpeds.2012.09.050_bib24","first-page":"89","article-title":"Iron metabolism in thalassemia intermedia","volume":"75","author":"Fiorelli","year":"1990","journal-title":"Hematologica"},{"key":"10.1016\/j.jpeds.2012.09.050_bib25","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1182\/blood-2010-01-259168","article-title":"Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation","volume":"116","author":"Bordon","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jpeds.2012.09.050_bib26","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1111\/j.1651-2227.1992.tb12168.x","article-title":"Anemia and macrocytosis: unrecognized features in cartilage-hair hypoplasia","volume":"81","author":"M\u00e4kitie","year":"1992","journal-title":"Acta Paediatr"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347612011420?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347612011420?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:54:43Z","timestamp":1758358483000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347612011420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S0022347612011420"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2012.09.050","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hypoplastic Anemia in Cartilage-Hair Hypoplasia\u2014Balancing between Iron Overload and Chelation","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2012.09.050","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}