{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:56:46Z","timestamp":1780354606850,"version":"3.54.1"},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1973,11,1]],"date-time":"1973-11-01T00:00:00Z","timestamp":120960000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Humangenetik"],"published-print":{"date-parts":[[1973,11]]},"DOI":"10.1007\/bf00284845","type":"journal-article","created":{"date-parts":[[2006,3,8]],"date-time":"2006-03-08T06:23:39Z","timestamp":1141799019000},"page":"113-117","source":"Crossref","is-referenced-by-count":22,"title":["X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of \u201cPaine syndrome\u201d?"],"prefix":"10.1007","volume":"20","author":[{"given":"E.","family":"Seemanov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Lesn\u00fd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hy\u00e1nek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Brachfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"R\u00f6ssler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pro\u0161kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BF00284845_CR1","volume-title":"Mendelian inheritance in man","author":"V. A. McKusick","year":"1971","unstructured":"McKusick, V. A.: Mendelian inheritance in man. Baltimore: Johns Hopkins Press 1971"},{"key":"BF00284845_CR2","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1056\/NEJM196003312621305","volume":"262","author":"R. S. Paine","year":"1960","unstructured":"Paine, R. S.: Evaluation of familial biochemically determined mental retardation in children with special reference to aminoacidurie. New Engl. J. Med. 262, 658\u2013665 (1960)","journal-title":"New Engl. J. Med."},{"key":"BF00284845_CR3","first-page":"13","volume":"117","author":"K. Schreier","year":"1969","unstructured":"Schreier, K., Porath, U., Heinke, V.: Papierchromatographische Untersuchungen der Aminos\u00e4uren im Urin cerebralgesch\u00e4digter Kinder. Mschr. Kinderheilk. 117, 13\u201316 (1969)","journal-title":"Mschr. Kinderheilk."},{"key":"BF00284845_CR4","first-page":"249","volume":"102","author":"J. Warkany","year":"1961","unstructured":"Warkany, J., Monroe, B. B., Sutherland, B. S.: Intrauterine growth retardation. Amer. J. Dis. Child. 102, 249\u2013279 (1961)","journal-title":"Amer. J. Dis. Child."}],"container-title":["Humangenetik"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284845.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00284845\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T21:04:46Z","timestamp":1554757486000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00284845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,11]]},"references-count":4,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1973,11]]}},"alternative-id":["BF00284845"],"URL":"https:\/\/doi.org\/10.1007\/bf00284845","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,11]]}}}