{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:19:16Z","timestamp":1760782756068},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4140,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 16\u2010year\u2010old girl with spondyloepiphyseal dysplasia, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. The manifestations are very similar to those reported by Spranger et al. [1991: J Pediatr 119:64\u201372] as Schimke immunoosseous dysplasia, except for age of onset. In Schimke immunoosseous dysplasia, growth retardations as an initial symptom is noted in early childhood and about 1 year after onset of progressive proteinuria. In our case the skeletal abnormality was noted at age 10 years as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at age 16 years. The findings strongly suggest that our patient has a juvenile variant of Schimke immunoosseous dysplasia. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:27Z","timestamp":1118508987000},"page":"266-269","source":"Crossref","is-referenced-by-count":33,"title":["Juvenile variant of Schimke immunoosseous dysplasia"],"prefix":"10.1002","volume":"49","author":[{"given":"Kazuhiro","family":"Hashimoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariko","family":"Takeuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ieshima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuyoshi","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaaki","family":"Kasagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80601-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973675"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340111"},{"issue":"6","key":"e_1_2_1_5_1","first-page":"115","article-title":"Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease","volume":"12","author":"Kaitila J","year":"1976","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150107"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(70)80051-1"},{"key":"e_1_2_1_8_1","first-page":"19","article-title":"Un nouveau type de sialidose avec atteinte renale","volume":"35","author":"Maroteaux P","year":"1978","journal-title":"Arch Franc Pediatr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80463-X"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1988.tb01836.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)81247-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"18563","DOI":"10.1016\/S0021-9258(19)81396-0","article-title":"Multiple abnormal \u03b2\u2010hexosaminidase \u03b1 chain mRNAs in a compound\u2010heterozygous Ashkenazi Jewish patient with Tay\u2010Sachs disease","volume":"263","author":"Ohno K","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-1229(86)90071-1"},{"issue":"12","key":"e_1_2_1_14_1","first-page":"258","article-title":"Chondroitin\u20106\u2010sulphate mucopolysaccharidosis in conjunction with lymphopenia, defective cellural immunity and the nephrotic syndrome","volume":"10","author":"Schimke RN","year":"1974","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-53-629-432"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81040-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:33:15Z","timestamp":1698211995000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,2]]}},"alternative-id":["10.1002\/ajmg.1320490304"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490304","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}