{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:07:42Z","timestamp":1790525262290,"version":"4.1.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T00:00:00Z","timestamp":1088640000000},"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":[[2004,7]]},"DOI":"10.1016\/j.ymgme.2004.04.005","type":"journal-article","created":{"date-parts":[[2004,5,29]],"date-time":"2004-05-29T14:05:48Z","timestamp":1085839548000},"page":"208-213","source":"Crossref","is-referenced-by-count":60,"title":["Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle"],"prefix":"10.1016","volume":"82","author":[{"given":"R","family":"Ensenauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.O","family":"Schwab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Tacke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"St\u00f6ckler-Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Schulze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hennig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Lehnert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2004.04.005_BIB1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1203\/00006450-199409000-00023","article-title":"Creatine deficiency in the brain: a new, treatable inborn error of metabolism","volume":"36","author":"St\u00f6ckler","year":"1994","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB2","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1016\/S0022-3476(97)70075-1","article-title":"Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism","volume":"131","author":"Schulze","year":"1997","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.ymgme.2004.04.005_BIB3","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0887-8994(97)00083-0","article-title":"Guanidinoacetate methyltransferase deficiency: new clinical features","volume":"17","author":"Ganesan","year":"1997","journal-title":"Pediatr. Neurol."},{"issue":"4","key":"10.1016\/j.ymgme.2004.04.005_BIB4","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/1531-8249(200004)47:4<540::AID-ANA23>3.0.CO;2-K","article-title":"Mental retardation and behavior problems as presenting signs of a creatine synthesis defect","volume":"47","author":"van der Knapp","year":"2000","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB5","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1212\/WNL.55.9.1407","article-title":"Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)","volume":"55","author":"Leuzzi","year":"2000","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ymgme.2004.04.005_BIB6","first-page":"212","article-title":"Presence of muscle creatine in a patient with guanidinoacetate methyltransferase (GAMT) deficiency","volume":"23","author":"Ensenauer","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB7","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.10455","article-title":"Lack of creatine in muscle and brain in an adult with GAMT deficiency","volume":"53","author":"Schulze","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB8","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1006\/mgme.2001.3257","article-title":"Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation","volume":"74","author":"Schulze","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB9","series-title":"Clinical Chemistry and Diagnosis","first-page":"439","article-title":"Disturbances of amino acid metabolism","author":"Bremer","year":"1981"},{"key":"10.1016\/j.ymgme.2004.04.005_BIB10","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.2004.04.005_BIB11","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0009-8981(99)00182-5","article-title":"Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism","volume":"290","author":"Ilas","year":"2000","journal-title":"Clin. Chim. Acta"},{"issue":"5","key":"10.1016\/j.ymgme.2004.04.005_BIB12","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1093\/clinchem\/48.5.767","article-title":"Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency","volume":"48","author":"Item","year":"2002","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB13","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/j.1749-6632.1987.tb32915.x","article-title":"Spatial localization in NMR spectroscopy in vivo","volume":"508","author":"Bottomley","year":"1987","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"6","key":"10.1016\/j.ymgme.2004.04.005_BIB14","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/mrm.1910300604","article-title":"Estimation of metabolite concentration from localized in vivo proton NMR spectra","volume":"30","author":"Provencher","year":"1993","journal-title":"Magn. Reson. Med."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB15","first-page":"283","article-title":"Image-selected in vivo spectroscopy (ISIS). A new technique for spatially selective NMR spectroscopy","volume":"66","author":"Ordidge","year":"1986","journal-title":"J. Magn. Reson"},{"key":"10.1016\/j.ymgme.2004.04.005_BIB16","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/nbm.684","article-title":"Dipolar coupling and ordering effects observed in magnetic resonance spectra of skeletal muscle","volume":"14","author":"Boesch","year":"2001","journal-title":"NMR Biomed."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB17","first-page":"582","article-title":"In vivo magnetic resonance spectroscopy in a patient with creatine deficiency syndrome: new aspects on mechanism of creatine uptake in brain and muscle","volume":"9","author":"Thiel","year":"2001","journal-title":"Proc. Int. Soc. Mag. Reson. Med."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB18","series-title":"Pediatric evaluation of disability inventory: development standardization and administration manual, Version 1.0","author":"Haley","year":"1992"},{"key":"10.1016\/j.ymgme.2004.04.005_BIB19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/BF01267947","article-title":"I-4 creatine metabolism and the consequences of creatine depletion in muscle","volume":"133\/134","author":"Wyss","year":"1994","journal-title":"Mol. Cell. Biochem."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB20","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.2004.04.005_BIB21","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/S0140-6736(96)04116-5","article-title":"Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism","volume":"348","author":"St\u00f6ckler","year":"1996","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2004.04.005_BIB22","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1002\/mrm.10627","article-title":"MR spectroscopy of muscle and brain in guanidinoacetate transferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency","volume":"50","author":"Renema","year":"2003","journal-title":"Magn. Reson. Med."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB23","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0169-328X(00)00269-2","article-title":"Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study","volume":"86","author":"Braissant","year":"2001","journal-title":"Brain Res. Mol. Brain Res."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB24","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1152\/physrev.2000.80.3.1107","article-title":"Creatine and creatinine metabolism","volume":"80","author":"Wyss","year":"2000","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB25","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1152\/japplphysiol.01171.2002","article-title":"Muscle creatine uptake and creatine transporter expression in response to creatine supplementation and depletion","volume":"94","author":"Brault","year":"2003","journal-title":"J. Appl. Physiol."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB26","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF02734659","article-title":"Biochemistry and neurotoxicology of guanidino compounds. History and recent advances","volume":"22","author":"Mori","year":"1987","journal-title":"Pavlov. J. Biol. Sci."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB27","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1007\/s004310050890","article-title":"Therapeutic trial of arginine restriction in creatine deficiency syndrome","volume":"157","author":"Schulze","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.04.005_BIB28","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/S0026-0495(97)90215-8","article-title":"Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis","volume":"46","author":"St\u00f6ckler","year":"1997","journal-title":"Metabolism"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204001155?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204001155?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T15:30:39Z","timestamp":1682695839000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719204001155"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["S1096719204001155"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2004.04.005","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2004,7]]}}}