{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:04:05Z","timestamp":1789679045419,"version":"4.0.1"},"reference-count":7,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4222,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 unrelated patients with Costello syndrome. The first is a 5\u2010year\u2010old girl with \u201ccoarse\u201d face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3\u2010year\u2010old boy with \u201ccoarse\u201d face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470737","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:04Z","timestamp":1118509924000},"page":"1135-1140","source":"Crossref","is-referenced-by-count":41,"title":["Report on two patients with Costello syndrome and sialuria"],"prefix":"10.1002","volume":"47","author":[{"given":"Maja Di","family":"Rocco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Gatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gandullia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arrigo","family":"Barabino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Picco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Borrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430405"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(85)90263-3"},{"key":"e_1_2_1_4_1","first-page":"114","article-title":"A new syndrome: mental subnormality and nasal papillomata","volume":"13","author":"Cestello JM","year":"1977","journal-title":"Aust Paediatr J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410118"},{"key":"e_1_2_1_6_1","volume-title":"The Metabolic Basis of Inherited Disease","author":"Gahl WA","year":"1989"},{"key":"e_1_2_1_7_1","unstructured":"ManciniGMS(1991):Lysosomal membrane transport: physiological and pathological events(Thesis) Erasmus University Rotterdam."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410316"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470737","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470737","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T06:17:27Z","timestamp":1698214647000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11,15]]},"references-count":7,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1993,11,15]]}},"alternative-id":["10.1002\/ajmg.1320470737"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470737","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,11,15]]}}}