{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T05:20:59Z","timestamp":1793251259561,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>Wilson disease (WD) has a wide spectrum of clinical manifestations. Affected children may be entirely asymptomatic and the diagnosis problematic. Herein we present the clinical and laboratory characteristics of 57 children with WD and point out the diagnostic difficulties in a pediatric population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>Clinical and laboratory data were collected from 57 consecutive children with WD. Evaluation included detailed physical examination, conventional laboratory testing, genetic analysis, and liver biopsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>The mean age at diagnosis was 9.27 \u00b1 3.62 years (range 4 months\u201318 years). Twenty patients were symptomatic, 19 were referred because of abnormal liver function test results and\/or hepatomegaly, and 18 received their diagnoses after family screening. Twenty\u2010two patients had both Kayser\u2010Fleischer ring and decreased serum ceruloplasmin levels, 13 had urinary copper excretion after penicillamine challenge &gt;1600 \u03bcg\/24 hours, and 3 had liver copper content &gt;250 \u03bcg\/g dry weight. Of the remaining 19 patients, 17 had both low serum ceruloplasmin \u226420 mg\/dL and increased urinary copper excretion, &gt;75 \u03bcg\/24 hours before, or &gt;1000 \u03bcg\/24 hours after penicillamine challenge. In 2 patients with equivocal cases who had serum ceruloplasmin 26 mg\/dL, the diagnosis was confirmed by genetic analysis. No correlation was found between specific mutations and the disease phenotypic expression. Chelating therapy was well tolerated, and the outcome was satisfactory.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>WD in children may be obscure and requires extensive investigation to establish the diagnosis. Genetic analysis is needed in equivocal cases.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e31817d80b8","type":"journal-article","created":{"date-parts":[[2009,1,15]],"date-time":"2009-01-15T08:14:42Z","timestamp":1232007282000},"page":"72-77","source":"Crossref","is-referenced-by-count":71,"title":["Wilson Disease in Children: Analysis of 57 Cases"],"prefix":"10.1002","volume":"48","author":[{"given":"Nina","family":"Manolaki","sequence":"first","affiliation":[{"name":"First Department of Pediatrics Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Nikolopoulou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George L","family":"Daikos","sequence":"additional","affiliation":[{"name":"First Department of Propaedeutic Medicine Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Panagiotakaki","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Tzetis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Athens University Aghia Sophia Children's Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleftheria","family":"Roma","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanouel","family":"Kanavakis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Athens University Aghia Sophia Children's Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassiliki P","family":"Syriopoulou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840120526"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/63.5.842"},{"key":"e_1_2_5_4_1","first-page":"221","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Danks DM","year":"1995"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-327"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-344"},{"key":"e_1_2_5_7_1","unstructured":"ATP7B MIM 277900 GenBank NM_00053.1.Wilson Disease Mutations Database.www.medgen.med.ualberta.ca\/database.html."},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065700750065162"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30345"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(00)00028-3"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.087262"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1053\/jhep.2003.50252"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0676.2003.00824.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1478-3231.2005.01072.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200219"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(97)70097-0"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.46.3.415"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840150410"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840180337"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199902000-00018"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.07.036"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/MPG.0b013e31817d80b8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T13:54:18Z","timestamp":1705586058000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/MPG.0b013e31817d80b8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["10.1097\/MPG.0b013e31817d80b8"],"URL":"https:\/\/doi.org\/10.1097\/mpg.0b013e31817d80b8","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1]]}}}