{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:51:39Z","timestamp":1778633499357,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,8,12]],"date-time":"2006-08-12T00:00:00Z","timestamp":1155340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Early detection and therapy of haematological abnormalities and\/or diseases may improve the prognosis of metabolic disorders. Accordingly, we aimed to evaluate the frequency and types of haematological abnormalities in children[\u201031pc] with various inherited metabolic disorders. The study group comprised 46 children with metabolic disorders who were followed at the Pediatric Metabolism Unit and were referred to the Pediatric Hematology Unit for evaluation of anaemia between June 2000 and 2005. The mean age of the children was 55.2 \u00b1 64.8 months at haematological evaluation (range 1 month\u201318 years, median 22.0 months); 16 were female and 30 were male. Of these 46 patients with anaemia, 25 of (54.3%) had anaemia of chronic disease (ACD), 9 (19.6%) had iron\u2010deficiency anaemia (IDA), 7 (15.2%) had megaloblastic anaemia due to vitamin B<jats:sub>12<\/jats:sub> deficiency, 3 (6.5%) had chronic haemolytic anaemia, 2 (4.3%) had autoimmune haemolytic anaemia, 1 had \u03b2\u2010thalassaemia major, and 1 had hereditary spherocytosis. In addition to the anaemia, bicytopenia or pancytopenia was found in 8 of 46 children (17.4%). The study indicated that in organic acidaemias including methylmalonic acidaemia, propionic acidaemia, isovaleric acidaemia, and argininosuccinic acidaemia, the majority of patients had ACD (75%), which was followed by vitamin B<jats:sub>12<\/jats:sub> deficiency anaemia and IDA (<jats:italic>p<\/jats:italic> &lt; 0.001). In PKU, both nutritional anaemias and ACD were present at about same frequency: 46.7% and 40%, respectively (<jats:italic>p<\/jats:italic> &gt; 0.05). This study suggested that congenital anaemias such as hereditary spherocytosis or thalassaemias should be kept in mind as a coexisting haematological diseases in young patients with inborn errors of metabolism. In conclusion, ACD and nutritional anaemias are the most prevalent anaemias seen in patients with inborn errors of metabolism. Early detection of the disease, early administration of specific diet, and close monitoring of the patients are very important factors to prevent the development of haematological diseases in patients with inborn errors of metabolism.<\/jats:p>","DOI":"10.1007\/s10545-006-0379-8","type":"journal-article","created":{"date-parts":[[2006,8,12]],"date-time":"2006-08-12T22:28:04Z","timestamp":1155421684000},"page":"607-611","source":"Crossref","is-referenced-by-count":14,"title":["Haematological findings in children with inborn errors of metabolism"],"prefix":"10.1002","volume":"29","author":[{"given":"Betul","family":"Tavil","sequence":"first","affiliation":[{"name":"Pediatric Hematology Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice Serapl Kalkanoglu","family":"Sivri","sequence":"additional","affiliation":[{"name":"Pediatric Nutrition &amp; Metabolism Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgay","family":"Coskun","sequence":"additional","affiliation":[{"name":"Pediatric Nutrition &amp; Metabolism Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aytemiz","family":"Gurgey","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Ozyurek","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Dursun","sequence":"additional","affiliation":[{"name":"Pediatric Nutrition &amp; Metabolism Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aysegul","family":"Tokatl\u0131","sequence":"additional","affiliation":[{"name":"Pediatric Nutrition &amp; Metabolism Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cigdem","family":"Altay","sequence":"additional","affiliation":[{"name":"TUBA member Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"Gumruk","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000117335.50541.F3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/07315724.2001.10719016"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072491"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880010290108708"},{"key":"e_1_2_1_6_1","first-page":"1771","volume-title":"Hematology of Infancy and Childhood","author":"Ezekowitz RAB","year":"2003"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100249900125"},{"key":"e_1_2_1_8_1","first-page":"17","article-title":"Severe neutropenia in an infant with methylmalonic acidemia","volume":"95","author":"Guerra\u2010Moreno J","year":"2003","journal-title":"Bol Asoc Med PR"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014233"},{"key":"e_1_2_1_10_1","first-page":"303","volume-title":"Inherited Metabolic Diseases","author":"Hoffmann GF","year":"2002"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198102000-00001"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.65.5.1023"},{"key":"e_1_2_1_13_1","first-page":"79","article-title":"An overview with emphasis on the liver","volume":"232","author":"Meerman L","year":"2000","journal-title":"Scand J Gastroenterol Suppl"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799576"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198608000-00017"},{"key":"e_1_2_1_16_1","first-page":"277","article-title":"Clinical outcomes of consanguineous marriages in Turkey","volume":"43","author":"Tuncbilek E","year":"2001","journal-title":"Turk J Pediatr"},{"key":"e_1_2_1_17_1","volume-title":"Iron deficiency anaemia: assessment, prevention, and control","author":"WHO\/UNICEF\/UNU","year":"2001"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0379-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-006-0379-8","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0379-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:50:34Z","timestamp":1694782234000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0379-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,12]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1007\/s10545-006-0379-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0379-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,12]]}}}