{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:20:32Z","timestamp":1790896832836,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report two unrelated boys with the X\u2010linked creatine transporter defect (CRTR) and clinical features more severe than those previously described with this disorder. These two boys presented at ages 12 and 30 months with severe mental retardation, absent speech development, hypotonia, myopathy and extra\u2010pyramidal movement disorder. One boy has seizures and some dysmorphic features; he also has evidence of an oxidative phosphorylation defect. They both had classical absence of creatine peak on brain magnetic resonance spectroscopy (MRS). In one, however, this critical finding was overlooked in the initial interpretation and was discovered upon subsequent review of the MRS. Molecular studies showed large genomic deletions of a large part of the 3\u2032 end of the complete open reading frame of the <jats:italic>SLC6A8<\/jats:italic> gene. This report emphasizes the importance of MRS in evaluating neurological symptoms, broadens the phenotypic spectrum of CRTR and adds knowledge about the pathogenesis of creatine depletion in the brain and retina.<\/jats:p>","DOI":"10.1007\/s10545-006-0123-4","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"214-219","source":"Crossref","is-referenced-by-count":65,"title":["X\u2010linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype"],"prefix":"10.1002","volume":"29","author":[{"given":"I. M.","family":"Anselm","sequence":"first","affiliation":[{"name":"Department of Neurology, Children's Hospital Boston Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. 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Young","family":"Poussaint","sequence":"additional","affiliation":[{"name":"Department of Radiology, Children's Hospital Boston Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Marsden","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Children's Hospital Boston Harvard Medical School 300 Longwood Ave. Boston MA 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10246"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2001.00052.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.120.8.1055"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/340849"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005643617251"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-36743"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022487218904"},{"key":"e_1_2_1_9_1","first-page":"1588","article-title":"The development of scotopic sensitivity","volume":"41","author":"Fulton AB","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:DOOP.0000005332.88367.b8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/340092"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.05-0382"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/323765"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"issue":"3","key":"e_1_2_1_15_1","first-page":"3S89","article-title":"Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment","volume":"17","author":"Leuzzi V","year":"2002","journal-title":"J Child Neurol"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30473"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(96)00074-6"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.110.12.1403"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/422102"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/320595"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024405821638"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022443503883"},{"key":"e_1_2_1_23_1","first-page":"914","article-title":"Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man","volume":"58","author":"Stockler S","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024453704800"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199712)20:12<1502::AID-MUS4>3.0.CO;2-C"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2000.80.3.1107"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0123-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0123-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:28:08Z","timestamp":1694755688000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0123-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0123-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0123-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}