{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:20:38Z","timestamp":1790896838715,"version":"4.1.0"},"reference-count":15,"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 describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance spectroscopy (MRS). The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS. Urine creatine\/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the <jats:italic>SLC6A8\/creatine transporter<\/jats:italic> gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878\u2013879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222\u20131224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively).<\/jats:p>","DOI":"10.1007\/s10545-006-0212-4","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"220-223","source":"Crossref","is-referenced-by-count":67,"title":["X\u2010Linked creatine transporter deficiency in two patients with severe mental retardation and autism"],"prefix":"10.1002","volume":"29","author":[{"given":"P.","family":"P\u00f3o\u2010Arg\u00fcelles","sequence":"first","affiliation":[{"name":"Departments of Neuropediatrics Berlin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Arias","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hospital Sant Joan de D\u00e9u Barcelona"},{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Corporaci\u00f3 Sanit\u00e0ria Cl\u00ednic Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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