{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T23:26:25Z","timestamp":1772580385459,"version":"3.50.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1016\/j.ymgme.2010.11.005","type":"journal-article","created":{"date-parts":[[2010,11,14]],"date-time":"2010-11-14T09:28:22Z","timestamp":1289726902000},"page":"153-156","source":"Crossref","is-referenced-by-count":23,"title":["Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene"],"prefix":"10.1016","volume":"102","author":[{"given":"R.","family":"Battini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Chilosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Casarano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Moro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Comparini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.G.","family":"Alessandr\u00ec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Leuzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tosetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Cioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2010.11.005_bb0005","series-title":"Physician Guide to the Treatment and Follow-up of Metabolic Diseases","first-page":"255","article-title":"Disorders of creatine metabolism","author":"St\u00f6ckler-Ipsiroglu","year":"2005"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0010","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/ana.79","article-title":"Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?","volume":"49","author":"Cecil","year":"2001","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0015","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ana.10246","article-title":"X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8","volume":"52","author":"Bizzi","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0020","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.a.30473","article-title":"Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families","volume":"132","author":"Mancini","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0025","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1111\/j.1528-1167.2007.01148.x","article-title":"Severe epilepsy in X-linked creatine transporter defect (CRTR-D)","volume":"48","author":"Mancardi","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0030","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1002\/ajmg.a.31827","article-title":"Mental retardation and verbal dyspraxia with de novo creatine transporter (SLC6A8) mutation","volume":"143","author":"Battini","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0035","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1111\/j.1399-0004.2005.00489.x","article-title":"Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation","volume":"68","author":"Kleefstra","year":"2005","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0040","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1212\/01.wnl.0000310987.04106.45","article-title":"Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8","volume":"70","author":"Anselm","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0045","series-title":"X-Linked Mental Retardation","author":"Stevenson","year":"2000"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0050","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1086\/422102","article-title":"High prevalence of SLC6A8 deficiency in X-linked mental retardation","volume":"75","author":"Rosemberg","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0055","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1023\/A:1024405821638","article-title":"X-linked creatine transporter defect: an overview","volume":"26","author":"Salomons","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0060","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1007\/s00439-006-0162-9","article-title":"X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology","volume":"119","author":"Clark","year":"2006","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0065","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/mrm.1910300604","article-title":"Estimation of metabolite concentrations from localized in vivo proton NMR spectra","volume":"30","author":"Provencher","year":"1993","journal-title":"Magn. Reson. Med."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0070","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1086\/320595","article-title":"X-linked creatine-transporter gene (SLC6A8) defect: a new creatine deficiency syndrome","volume":"68","author":"Salomons","year":"2001","journal-title":"Am. J. Hum. Genet. A"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0075","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.ab.2005.05.003","article-title":"Gas chromatography\/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency","volume":"343","author":"Alessandr\u00ec","year":"2005","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0080","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1080\/13554790802060821","article-title":"Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect","volume":"14","author":"Chilosi","year":"2008","journal-title":"Neurocase"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0085","series-title":"Wechsler Preschool and Primary Scale of Intelligence-III","author":"Wechsler","year":"2002"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0090","series-title":"The Developmental Test of Visual\u2013Motor Integration","author":"Beery","year":"1997"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0095","series-title":"Test del Primo Linguaggio","author":"Axia","year":"1995"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0100","series-title":"Technical Report, Italian National Research Council","article-title":"Capire giocando: uno strumento per la valutazione verbale precoce (TCVP)","author":"Chilosi","year":"2003"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0105","series-title":"L'acquisizione della morfosintassi in italiano","author":"Cipriani","year":"1993"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0110","first-page":"341","article-title":"Una prova di ripetizione di frasi per la valutazione del primo sviluppo grammaticale","author":"De Vescovi","year":"2001"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0115","first-page":"S1","article-title":"Clinical and MR spectroscopy follow up of CT1 deficient Italian patients treated by oral arginine","volume":"298-P","author":"Battini","year":"2010"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0120","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1080\/09297040701632209","article-title":"Linguistic profile of individuals with Down syndrome: comparing the linguistic performance of three developmental disorders","volume":"14","author":"Ypsilanti","year":"2008","journal-title":"Child Neuropsychol."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0125","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1352\/0895-8017(2003)108<0149:RLSOAA>2.0.CO;2","article-title":"Receptive language skills of adolescents and young adults with down or fragile X syndrome","volume":"108","author":"Abbeduto","year":"2003","journal-title":"Am. J. Ment. Retard."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0130","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1469-8749.2009.03480.x","article-title":"A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene","volume":"52","author":"Alcaide","year":"2010","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0135","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1002\/humu.20532","article-title":"Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application","volume":"28","author":"Rosemberg","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0140","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.neuroscience.2009.06.065","article-title":"Immunohistochemical localisation of the creatine transporter in the rat brain","volume":"163","author":"Mak","year":"2009","journal-title":"Neuroscience"},{"key":"10.1016\/j.ymgme.2010.11.005_bb0145","first-page":"1","article-title":"Clinical features and X-inactivation in females heterozygous for creatine transporter defect","author":"Van de Kamp","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0150","article-title":"Treatment of intractable epilepsy in a female with SLC6A8 deficiency","volume":"26","author":"Mercimek-Mahmutoglu","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0155","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1471-4159.2010.06935.x","article-title":"Synthesis and transport of creatine in the CNS: importance for cerebral function","volume":"115","author":"B\u00e9ard","year":"2010","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2010.11.005_bb0160","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1007\/s10545-008-0902-1","article-title":"Arginine supplementation in four patients with X-linked creatine transporter defect","volume":"31","author":"Fons","year":"2008","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210003975?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719210003975?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,6]],"date-time":"2018-12-06T21:24:57Z","timestamp":1544131497000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719210003975"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S1096719210003975"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2010.11.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2011,2]]}}}