{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:20:40Z","timestamp":1761844840338},"reference-count":49,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.ymgme.2018.02.010","type":"journal-article","created":{"date-parts":[[2018,2,16]],"date-time":"2018-02-16T17:56:17Z","timestamp":1518803777000},"page":"463-471","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts"],"prefix":"10.1016","volume":"123","author":[{"given":"Marie","family":"Joncquel-Chevalier Curt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Ad\u00e9la\u00efde","family":"Bout","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Fontaine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillemette","family":"Huet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilles","family":"Morin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Moortgat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Marie","family":"Cuisset","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cheillan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Vamecq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2018.02.010_bb0005","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."},{"issue":"2\u20133","key":"10.1016\/j.ymgme.2018.02.010_bb0010","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."},{"issue":"1","key":"10.1016\/j.ymgme.2018.02.010_bb0015","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s10545-006-0123-4","article-title":"X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype","volume":"29","author":"Anselm","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2018.02.010_bb0020","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1023\/A:1022487218904","article-title":"The clinical syndrome of creatine transporter deficiency","volume":"244","author":"deGrauw","year":"2003","journal-title":"Mol. Cell Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0025","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.2018.02.010_bb0030","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":"Rosenberg","year":"2004","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2018.02.010_bb0035","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0035-3787(05)85034-9","article-title":"Creatine deficiency syndromes","volume":"161","author":"Cheillan","year":"2005","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0040","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1373\/clinchem.2004.034538","article-title":"Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry","volume":"50","author":"Cognat","year":"2004","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0045","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/1750-1172-7-96","article-title":"Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms","volume":"7","author":"Cheillan","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cccn.2005.04.022","article-title":"Laboratory diagnosis of defects of creatine biosynthesis and transport","volume":"361","author":"Verhoeven","year":"2005","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0055","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.ymgme.2013.09.005","article-title":"Creatine and guanidinoacetate reference values in a French population","volume":"110","author":"Joncquel-Chevalier Curt","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0060","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.ymgme.2013.04.006","article-title":"Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes","volume":"109","author":"Comeaux","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0065","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1016\/j.clinbiochem.2007.07.010","article-title":"Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening","volume":"40","author":"Arias","year":"2007","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0070","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.biochi.2015.10.022","article-title":"Creatine biosynthesis and transport in health and disease","volume":"119","author":"Joncquel-Chevalier Curt","year":"2015","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0075","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.cell.2014.12.018","article-title":"Extracellular metabolic energetics can promote cancer progression","volume":"160","author":"Loo","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0080","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/978-1-4020-6486-9_6","article-title":"Functional insights into the creatine transporter","volume":"46","author":"Christie","year":"2007","journal-title":"Subcell Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0085","first-page":"429","article-title":"Simultaneous determination of guanidinoacetate, creatine and creatinine by liquid chromatography-tandem mass spectrometry: a diagnostic tool for creatine deficiency syndromes in body fluids and a perspective use on cultured fibroblasts","volume":"71","author":"Van Noolen","year":"2013","journal-title":"Ann. Biol. Clin. (Paris)"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0090","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s10545-006-0212-4","article-title":"X-linked creatine transporter deficiency in two patients with severe mental retardation and autism","volume":"29","author":"P\u00f3o-Arg\u00fcelles","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0095","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10545-012-9495-9","article-title":"Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome","volume":"36","author":"Valayannopoulos","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0100","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1002\/ajmg.a.33551","article-title":"Creatine transporter deficiency in two half-brothers","volume":"152A","author":"Ardon","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0105","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ymgmr.2016.06.005","article-title":"Creatine transporter deficiency: novel mutations and functional studies","volume":"8","author":"Ardon","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0110","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ymgme.2011.12.022","article-title":"Detection of variants in SLC6A8 and functional analysis of unclassified missense variants","volume":"105","author":"Betsalel","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0115","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 functions","volume":"115","author":"B\u00e9ard","year":"2010","journal-title":"J. Neurochem."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2018.02.010_bb0120","doi-asserted-by":"crossref","first-page":"S53","DOI":"10.1016\/j.ymgme.2010.02.011","article-title":"Ammonia toxicity to the brain: effects on creatine metabolism and transport and protective roles of creatine","volume":"100","author":"Braissant","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0125","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s10545-011-9433-2","article-title":"Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers","volume":"35","author":"Braissant","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0130","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.nbd.2009.10.022","article-title":"Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes","volume":"37","author":"Braissant","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0135","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/s10545-008-0826-9","article-title":"AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review","volume":"31","author":"Braissant","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0140","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1007\/s00726-011-0852-z","article-title":"Creatine deficiency syndromes and the importance of creatine synthesis in the brain","volume":"40","author":"Braissant","year":"2011","journal-title":"Amino Acids"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0145","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.biopha.2017.04.075","article-title":"Co-administration of creatine and guanidinoacetic acid for augmented tissue bioenergetics: a novel approach?","volume":"91","author":"Ostojic","year":"2017","journal-title":"Biomed Pharmacother"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0150","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0009-8981(01)00480-6","article-title":"Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry","volume":"308","author":"Bodamer","year":"2001","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0155","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/ana.20419","article-title":"Creatine metabolism in combined methylmalonic aciduria and homocystinuria","volume":"57","author":"Bodamer","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0160","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.cca.2005.06.016","article-title":"Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry","volume":"364","author":"Carducci","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0165","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0731-7085(98)00280-5","article-title":"An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency","volume":"18","author":"Struys","year":"1998","journal-title":"J. Pharm. Biomed. Anal."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0170","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ymgme.2004.05.001","article-title":"Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport","volume":"82","author":"Almeida","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0175","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1093\/ndt\/gfq404","article-title":"Methylation cycle, arginine-creatine pathway and asymmetric dimethylarginine in paediatric renal transplant","volume":"26","author":"Andrade","year":"2011","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0180","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ymgme.2004.04.009","article-title":"Guanidinoacetate and creatine\/creatinine levels in controls and patients with urea cycle defects","volume":"82","author":"Arias","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0185","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1203\/PDR.0b013e318176180e","article-title":"The arginine-creatine pathway is disturbed in children and adolescents with renal transplants","volume":"64","author":"Andrade","year":"2008","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0190","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.jneumeth.2006.03.005","article-title":"Methods for the diagnosis of creatine deficiency syndromes: a comparative study","volume":"156","author":"Arias","year":"2006","journal-title":"J. Neurosci. Methods"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0195","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1258\/acb.2008.008029","article-title":"Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry","volume":"45","author":"Carling","year":"2008","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0200","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1212\/01.wnl.0000316391.40236.c3","article-title":"Reduced brain choline in homocystinuria due to remethylation defects","volume":"71","author":"Debray","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0205","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/nbm.1367","article-title":"Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids","volume":"22","author":"Engelke","year":"2009","journal-title":"NMR Biomed."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0210","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.gene.2014.01.019","article-title":"Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF","volume":"538","author":"Haas","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0215","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ab.2009.07.037","article-title":"Simultaneous assay of isotopic enrichment and concentration of guanidinoacetate and creatine by gas chromatography-mass spectrometry","volume":"395","author":"Kasumov","year":"2009","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0220","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.nmd.2013.04.011","article-title":"Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency","volume":"23","author":"Nouioua","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0225","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/j.1469-8749.2008.03227.x","article-title":"Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language","volume":"51","author":"O'Rourke","year":"2009","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0230","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s10545-013-9662-7","article-title":"Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency","volume":"37","author":"Pasquali","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0235","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.clinbiochem.2008.10.001","article-title":"Determination of creatine and guanidinoacetate by GC-MS: study of their stability in urine at different temperatures","volume":"42","author":"Prieto","year":"2009","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2018.02.010_bb0240","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.cca.2014.05.007","article-title":"Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency","volume":"436","author":"Tran","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2018.02.010_bb0245","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.ymgme.2007.03.006","article-title":"Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology","volume":"91","author":"Verbruggen","year":"2007","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921730656X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671921730656X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,3,17]],"date-time":"2019-03-17T11:45:16Z","timestamp":1552823116000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109671921730656X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S109671921730656X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.02.010","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}