{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T06:54:50Z","timestamp":1790060090932,"version":"4.0.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1016\/j.nmd.2013.04.011","type":"journal-article","created":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T01:01:40Z","timestamp":1371171700000},"page":"670-674","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Creatine deficiency syndrome. A treatable myopathy due to arginine\u2013glycine amidinotransferase (AGAT) deficiency"],"prefix":"10.1016","volume":"23","author":[{"given":"S.","family":"Nouioua","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Cheillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zaouidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.S.","family":"Salomons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Amedjout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Kessaci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Boulahdour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hamadouche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tazir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2013.04.011_b0005","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.nmd.2013.04.011_b0100","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.nmd.2013.04.011_b0015","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1023\/A:1022443503883","article-title":"Creatine deficiency syndromes","volume":"244","author":"Schulze","year":"2003","journal-title":"Mol Cell Biochem"},{"key":"10.1016\/j.nmd.2013.04.011_b0020","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ymgme.2010.06.021","article-title":"l-Arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation","volume":"101","author":"Edvardson","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2013.04.011_b0025","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1212\/WNL.0b013e3181e7cabd","article-title":"Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy","volume":"75","author":"Verma","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2013.04.011_b0030","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":"Stockler","year":"1994","journal-title":"Pediatr Res"},{"key":"10.1016\/j.nmd.2013.04.011_b0035","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/S1096-7192(02)00175-0","article-title":"Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree","volume":"77","author":"Battini","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2013.04.011_b0040","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.nmd.2013.04.011_b0085","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\u2013tandem mass spectrometry","volume":"50","author":"Cognat","year":"2004","journal-title":"Clin Chem"},{"key":"10.1016\/j.nmd.2013.04.011_b0050","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1086\/323765","article-title":"Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans","volume":"69","author":"Item","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2013.04.011_b0055","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.jpeds.2006.01.043","article-title":"Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease","volume":"148","author":"Battini","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.nmd.2013.04.011_b0060","unstructured":"Johnston K, Plawner L, Cooper L, et al. The second family with AGAT deficiency (creatine biosynthesis defect): diagnosis, treatment and the first prenatal diagnosis. Abstract 205, Salt Lake City, UT: American Society of Human Genetics 55th Annual Meeting, 2005."},{"key":"10.1016\/j.nmd.2013.04.011_b0065","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.nmd.2013.04.011_b0090","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2012.01.017","article-title":"Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency","volume":"106","author":"Ndika","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2013.04.011_b0095","series-title":"Physician guide to the treatment and follow-up of metabolic diseases","first-page":"255","article-title":"Disorders of creatine metabolism","author":"Stockler-Ipsiroglu","year":"2005"},{"key":"10.1016\/j.nmd.2013.04.011_b0080","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/978-1-4020-6486-9_9","article-title":"Pre-symptomatic treatment of creatine biosynthesis defect","volume":"46","author":"Schulze","year":"2007","journal-title":"Subcell Biochem"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089661300151X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089661300151X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:01:31Z","timestamp":1760774491000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089661300151X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["S096089661300151X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2013.04.011","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Creatine deficiency syndrome. A treatable myopathy due to arginine\u2013glycine amidinotransferase (AGAT) deficiency","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2013.04.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}