{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:08:06Z","timestamp":1791400086415,"version":"4.3.3"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1999,6,1]],"date-time":"1999-06-01T00:00:00Z","timestamp":928195200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1999,6]]},"DOI":"10.1038\/9691","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:50:09Z","timestamp":1027673409000},"page":"175-177","source":"Crossref","is-referenced-by-count":425,"title":["Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome"],"prefix":"10.1038","volume":"22","author":[{"given":"Sander M.","family":"Houten","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wietse","family":"Kuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinus","family":"Duran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annet","family":"van Royen-Kerkhof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerrit J.","family":"Romeijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Frenkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lambertus","family":"Dorland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina M.J.","family":"de Barse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim A.R.","family":"Huijbers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ger T.","family":"Rijkers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bwee Tien","family":"Poll-The","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0699_175_CR1","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1016\/S0140-6736(84)92505-4","volume":"1","author":"JWM van der Meer","year":"1984","unstructured":"van der Meer, J.W.M. et al. Hyperimmunoglobulinemia D and periodic fever: a new syndrome. Lancet 1, 1087\u2013 1090 (1984).","journal-title":"Lancet"},{"key":"BFng0699_175_CR2","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1097\/00005792-199405000-00002","volume":"73","author":"JPH Drenth","year":"1994","unstructured":"Drenth, J.P.H., Haagsma, C.J., van der Meer, J.W.M. & The International Hyper-IgD Study Group Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 73, 133\u2013144 (1994).","journal-title":"Medicine"},{"key":"BFng0699_175_CR3","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1016\/S0021-9258(17)42242-3","volume":"269","author":"L Biardi","year":"1994","unstructured":"Biardi, L. et al. Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisomal disorders. J. Biol. Chem. 269, 1197\u20131205 ( 1994).","journal-title":"J. Biol. Chem."},{"key":"BFng0699_175_CR4","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1038\/343425a0","volume":"343","author":"JL Goldstein","year":"1990","unstructured":"Goldstein, J.L. & Brown, M.S. Regulation of the mevalonate pathway. Nature 343, 425\u2013 430 (1990).","journal-title":"Nature"},{"key":"BFng0699_175_CR5","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1056\/NEJM198606193142504","volume":"314","author":"G Hoffmann","year":"1986","unstructured":"Hoffmann, G. et al. Mevalonic aciduria\u2014an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med. 314 , 1610\u20131614 (1986).","journal-title":"N. Engl. J. Med."},{"key":"BFng0699_175_CR6","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1542\/peds.91.5.915","volume":"91","author":"GF Hoffmann","year":"1993","unstructured":"Hoffmann, G.F. et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91, 915\u2013 921 (1993).","journal-title":"Pediatrics"},{"key":"BFng0699_175_CR7","doi-asserted-by":"crossref","first-page":"13229","DOI":"10.1016\/S0021-9258(18)42199-0","volume":"267","author":"BL Schafer","year":"1992","unstructured":"Schafer, B.L. et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem. 267, 13229\u201313238 (1992).","journal-title":"J. Biol. Chem."},{"key":"BFng0699_175_CR8","doi-asserted-by":"publisher","first-page":"26756","DOI":"10.1074\/jbc.272.42.26756","volume":"272","author":"DD Hinson","year":"1997","unstructured":"Hinson, D.D. et al. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency. J. Biol. Chem. 272, 26756\u2013 26760 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFng0699_175_CR9","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1093\/hmg\/7.10.1581","volume":"7","author":"M Centola","year":"1998","unstructured":"Centola, M., Aksentijevich, I. & Kastner, D.L. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum. Mol. Genet. 7, 1581\u20131588 ( 1998).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0699_175_CR10","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1016\/S0022-2275(20)37301-6","volume":"37","author":"B Lindenthal","year":"1996","unstructured":"Lindenthal, B. et al. Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis. J. Lipid Res. 37, 2193\u2013 2201 (1996).","journal-title":"J. Lipid Res."},{"key":"BFng0699_175_CR11","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1007\/BF01800016","volume":"15","author":"GF Hoffmann","year":"1992","unstructured":"Hoffmann, G.F. et al. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J. Inherit. Metab. Dis. 15, 738 \u2013746 (1992).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFng0699_175_CR12","doi-asserted-by":"crossref","first-page":"7130","DOI":"10.1016\/S0021-9258(19)42083-8","volume":"249","author":"WH Habig","year":"1974","unstructured":"Habig, W.H., Pabst, M.J. & Jakoby, W.B. Glutathione S-transferases. The first enzymatic step in mercapturic acid formation. J. Biol. Chem. 249, 7130\u20137139 (1974).","journal-title":"J. Biol. Chem."},{"key":"BFng0699_175_CR13","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/0005-2760(94)90064-7","volume":"1215","author":"L Ijlst","year":"1994","unstructured":"Ijlst, L., Wanders, R.J.A., Ushikubo, S., Kamijo, T. & Hashimoto, T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the \u03b1-subunit of the mitochondrial trifunctional protein. Biochim. Biophys. Acta 1215, 347\u2013 350 (1994).","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0699_175.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0699_175","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0699_175.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:42:27Z","timestamp":1684442547000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0699_175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,6]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1999,6]]}},"alternative-id":["BFng0699_175"],"URL":"https:\/\/doi.org\/10.1038\/9691","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,6]]}}}