{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:34:09Z","timestamp":1777001649412,"version":"3.51.4"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1186\/s12969-016-0081-9","type":"journal-article","created":{"date-parts":[[2016,3,24]],"date-time":"2016-03-24T23:24:18Z","timestamp":1458861858000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra"],"prefix":"10.1186","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0735-6355","authenticated-orcid":false,"given":"Skaiste","family":"Peciuliene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birute","family":"Burnyte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rymanta","family":"Gudaitiene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Skirmante","family":"Rusoniene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nijole","family":"Drazdiene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arunas","family":"Liubsys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Algirdas","family":"Utkus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,3,25]]},"reference":[{"key":"81_CR1","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.mehy.2007.08.030","volume":"70","author":"P Celec","year":"2008","unstructured":"Celec P, Behuliak M. The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria. Med Hypotheses. 2008;70:938\u201340.","journal-title":"Med Hypotheses"},{"key":"81_CR2","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1016\/j.ymgme.2012.10.019","volume":"104","author":"C Prasad","year":"2012","unstructured":"Prasad C, Salvadori M, Rupar C. Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. Mol Genet Metab. 2012;104:756\u20139.","journal-title":"Mol Genet Metab"},{"key":"81_CR3","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.clim.2012.09.011","volume":"147","author":"R Burgh van der","year":"2013","unstructured":"van der Burgh R, ter Haar N, Boes M, Frenkel J. Mevalonate kinase deficiency, a metabolic autoinflamatory disease. Clin Immun. 2013;147:197\u2013206.","journal-title":"Clin Immun"},{"key":"81_CR4","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.autrev.2012.07.027","volume":"12","author":"R Caorsi","year":"2012","unstructured":"Caorsi R, Federici S, Gattorno M. Biologic drugs in autoinflammatory syndromes. Autoimmun Rev. 2012;12:81\u20136.","journal-title":"Autoimmun Rev"},{"key":"81_CR5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-1-13","volume":"1","author":"D Haas","year":"2006","unstructured":"Haas D, Hoffman G. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.","journal-title":"Orphanet J Rare Dis"},{"key":"81_CR6","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1007\/s10067-014-2523-4","volume":"33","author":"R Campanilho-Marques","year":"2014","unstructured":"Campanilho-Marques R, Brogan P. Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature. Clin Rheumatol. 2014;33:1681\u20134.","journal-title":"Clin Rheumatol"},{"key":"81_CR7","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1056\/NEJMoa070715","volume":"356","author":"B Neven","year":"2007","unstructured":"Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur A-M, Debre M, et al. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007;356:2700\u20133.","journal-title":"N Engl J Med"},{"key":"81_CR8","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.gene.2014.03.031","volume":"542","author":"J Santos","year":"2014","unstructured":"Santos J, Arostegui J, Brito M, Neves C, Conde M. Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with severe phenotype. Gene. 2014;542:217\u201320.","journal-title":"Gene"},{"key":"81_CR9","author":"S Kostjukovits","year":"2015","unstructured":"Kostjukovits S, Kalliokoski L, Antila K, Korppi M. Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience. Eur J Pediatr. 2015. doi: 10.1007\/s00431-015-2505-9 .","journal-title":"Eur J Pediatr"},{"key":"81_CR10","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/ddrr.1114","volume":"17","author":"S Kanungo","year":"2013","unstructured":"Kanungo S, Soares N, He M, Steiner R. Sterol metabolism disorders and neurodevelopment. Dev Disabil Res Rev. 2013;17:197\u2013210.","journal-title":"Dev Disabil Res Rev"},{"key":"81_CR11","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1542\/peds.2010-3639","volume":"128","author":"B Bader-Meunier","year":"2011","unstructured":"Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128:152\u20139.","journal-title":"Pediatrics"},{"issue":"6","key":"81_CR12","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1212\/01.WNL.0000115390.33405.F7","volume":"62","author":"A Simon","year":"2004","unstructured":"Simon A, Kremer H, Wevers R, Scheffer H, de Jong J, van der Meer J, et al. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology. 2004;62(6):994\u20137.","journal-title":"Neurology"},{"key":"81_CR13","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/s00281-015-0492-6","volume":"37","author":"CM Mulders-Manders","year":"2015","unstructured":"Mulders-Manders CM, Simon A. Hyper-IgD syndrome\/mevalonate kinase deficiency: what is new? Semin Immunopathol. 2015;37:371\u20136.","journal-title":"Semin Immunopathol"},{"key":"81_CR14","doi-asserted-by":"crossref","unstructured":"Berody S, Galeotti C, Kone-Paut I, Piram M. A retrospective survey of patient\u2019s journey before the diagnosis of mevalonate kinase deficiency. Joint Bone Spine. 2015. http:\/\/dx.doi.org\/10.1016\/j.jbspin.2014.12.011","DOI":"10.1016\/j.jbspin.2014.12.011"},{"key":"81_CR15","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1136\/annrheumdis-2011-201271","volume":"71","author":"Y Shinar","year":"2012","unstructured":"Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012;71:1599\u2013605.","journal-title":"Ann Rheum Dis"},{"issue":"1\u20133","key":"81_CR16","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S1388-1981(00)00135-9","volume":"1529","author":"SM Houten","year":"2000","unstructured":"Houten SM, Wanders RJ, Waterham HR. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta. 2000;1529(1\u20133):19\u201332.","journal-title":"Biochim Biophys Acta"},{"issue":"3","key":"81_CR17","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.clim.2013.03.016","volume":"147","author":"AA Jesus De","year":"2013","unstructured":"De Jesus AA, Goldbach-Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013;147(3):155\u201374.","journal-title":"Clin Immunol"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-016-0081-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T05:17:26Z","timestamp":1498281446000},"score":1,"resource":{"primary":{"URL":"http:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-016-0081-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,25]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["81"],"URL":"https:\/\/doi.org\/10.1186\/s12969-016-0081-9","relation":{},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,25]]},"article-number":"19"}}