{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:50:36Z","timestamp":1792144236914,"version":"4.4.0"},"reference-count":20,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Department of Pediatrics, University of Toronto [New Investigator Start-Up Funding]."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1002\/humu.23018","type":"journal-article","created":{"date-parts":[[2016,5,28]],"date-time":"2016-05-28T08:33:00Z","timestamp":1464424380000},"page":"926-932","source":"Crossref","is-referenced-by-count":8,"title":["Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in<i>GATM<\/i>"],"prefix":"10.1155","volume":"37","author":[{"given":"Caro-Lyne","family":"DesRoches","sequence":"first","affiliation":[{"name":"Genetics and Genome Biology Program; Research Institute; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Bruun","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program; Research Institute; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peixiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program; Research Institute; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program; Research Institute; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"},{"name":"Genome Diagnostics; Department of Paediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadet","family":"Mercimek-Mahmutoglu","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program; Research Institute; The Hospital for Sick Children; Toronto Ontario M5G 1\u00d78 Canada"},{"name":"Division of Clinical and Metabolic Genetics; Department of Pediatrics; The Hospital for Sick Children; University of Toronto; Toronto Ontario M5G 1\u00d78 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2016,6,27]]},"reference":[{"key":"10.1002\/humu.23018-BIB0001|humu23018-cit-0001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense variants","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.23018-BIB0002|humu23018-cit-0002","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.jpeds.2006.01.043","article-title":"Arginine:glycine amidinotransferase (GATM) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease","volume":"148","author":"Battini","year":"2006","journal-title":"J Pediatr"},{"key":"10.1002\/humu.23018-BIB0003|humu23018-cit-0003","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/S1096-7192(02)00175-0","article-title":"Creatine depletion in a new case with GATM deficiency: clinical and genetic study in a large pedigree","volume":"77","author":"Battini","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.23018-BIB0004|humu23018-cit-0004","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/1531-8249(200004)47:4<511::AID-ANA15>3.0.CO;2-N","article-title":"Reversible brain creatine deficiency in two sisters with normal blood creatine levels","volume":"47","author":"Bianchi","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.23018-BIB0005|humu23018-cit-0005","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":"10.1002\/humu.23018-BIB0006|humu23018-cit-0006","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ymgme.2010.06.021","article-title":"L-arginine:glycine amidinotransferase (GATM) deficiency: clinical presentation and response to treatment in two patients with a novel variant","volume":"101","author":"Edvardson","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.23018-BIB0007|humu23018-cit-0007","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"10.1002\/humu.23018-BIB0008|humu23018-cit-0008","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.nbd.2015.03.029","article-title":"Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development","volume":"79","author":"Hanna-El-Daher","year":"2015","journal-title":"Neurobiol Dis"},{"key":"10.1002\/humu.23018-BIB0009|humu23018-cit-0009","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":"10.1002\/humu.23018-BIB0010|humu23018-cit-0010","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22511","article-title":"Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene","volume":"35","author":"Mercimek-Mahmutoglu","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.23018-BIB0011|humu23018-cit-0011","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Mercimek-Mahmutoglu","year":"2009"},{"key":"10.1002\/humu.23018-BIB0012|humu23018-cit-0012","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":"10.1002\/humu.23018-BIB0013|humu23018-cit-0013","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 (GATM) deficiency","volume":"23","author":"Nouioua","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1002\/humu.23018-BIB0014|humu23018-cit-0014","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1093\/nar\/29.5.1185","article-title":"GeneSplicer: a new computational method for splice site prediction","volume":"29","author":"Pertea","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.23018-BIB0015|humu23018-cit-0015","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comp Biol"},{"key":"10.1002\/humu.23018-BIB0016|humu23018-cit-0016","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1002\/humu.23018-BIB0017|humu23018-cit-0017","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ymgme.2015.10.003","article-title":"Arginine:glycine amidinotransferase (GATM) deficiency: clinical features and long term outcomes in 16 patients diagnosed worldwide","volume":"116","author":"Stockler-Ipsiroglu","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.23018-BIB0018|humu23018-cit-0018","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1136\/jmedgenet-2013-101658","article-title":"Phenotype and genotype in 101 males with X-linked creatine transporter deficiency","volume":"50","author":"de Kamp","year":"2013","journal-title":"J Med Genet"},{"key":"10.1002\/humu.23018-BIB0019|humu23018-cit-0019","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":"10.1002\/humu.23018-BIB0020|humu23018-cit-0020","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comp Biol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23018","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:31Z","timestamp":1672332871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23018"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2016,6,27]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23018","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6,27]]}}}