{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:16:22Z","timestamp":1772990182985,"version":"3.50.1"},"reference-count":67,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2013,4,9]]},"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype\u2013genotype correlation has been lacking.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (<jats:italic>SLC6A8<\/jats:italic>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results and conclusions<\/jats:title>\n                  <jats:p>Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the <jats:italic>SLC6A8<\/jats:italic> gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3\u2032 end of the <jats:italic>SLC6A8<\/jats:italic> gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2013-101658","type":"journal-article","created":{"date-parts":[[2013,5,3]],"date-time":"2013-05-03T20:46:32Z","timestamp":1367613992000},"page":"463-472","source":"Crossref","is-referenced-by-count":143,"title":["Phenotype and genotype in 101 males with X-linked creatine transporter deficiency"],"prefix":"10.1136","volume":"50","author":[{"given":"J M","family":"van de Kamp","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"O T","family":"Betsalel","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"S","family":"Mercimek-Mahmutoglu","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada"}]},{"given":"L","family":"Abulhoul","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Medicine Unit, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK"}]},{"given":"S","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Medicine Unit, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK"}]},{"given":"I","family":"Anselm","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA"}]},{"given":"H","family":"Azzouz","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie et des maladies m\u00e9taboliques, l'H\u00f4pital la RABTA, Tunis, Tunisia"}]},{"given":"D","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Metabolic Clinic, SA Pathology, North-Adelaide, Australia"}]},{"given":"A","family":"de Brouwer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}]},{"given":"B","family":"Hamel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}]},{"given":"T","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}]},{"given":"H","family":"Yntema","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands"}]},{"given":"J","family":"Campistol","sequence":"additional","affiliation":[{"name":"Neuropediatric Department, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}]},{"given":"M A","family":"Vilaseca","sequence":"additional","affiliation":[{"name":"Neuropediatric Department, Hospital Sant Joan de D\u00e9u, Barcelona, Spain"}]},{"given":"D","family":"Cheillan","sequence":"additional","affiliation":[{"name":"Service Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Groupement Hospitalier Est, INSERM U.1060\/Universit\u00e9 Lyon-1\/Hospices Civils de Lyon, Lyon, France"}]},{"given":"M","family":"D\u2019Hooghe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Algemeen Ziekenhuis Sint-Jan, Bruges, Belgium"}]},{"given":"L","family":"Diogo","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metab\u00f3licas, Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico\u2014CHUC, Coimbra, Portugal"}]},{"given":"P","family":"Garcia","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metab\u00f3licas, Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico\u2014CHUC, Coimbra, Portugal"}]},{"given":"C","family":"Valongo","sequence":"additional","affiliation":[{"name":"Unidade de Rastreio Neonatal, Metabolismo e Gen\u00e9tica, Departamento de Gen\u00e9tica Humana, Instituto Nacional de Sa\u00fade Dr. Ricardo Jorge I.P., Porto, Portugal"}]},{"given":"M","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Unidade de Neuropediatria e Desesenvolvimento, Hospital Garcia de Orta, Almada, Portugal"}]},{"given":"S","family":"Frints","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands"}]},{"given":"B","family":"Wilcken","sequence":"additional","affiliation":[{"name":"Department of Paediatrics & Child Health, Children's Hospital Westmead, Westmead, Australia"}]},{"given":"S","family":"von der Haar","sequence":"additional","affiliation":[{"name":"Pr\u00e4natalmedizin und Genetik N\u00fcrnberg, Medizinisches Versorgungszentrum, Nuremberg, Germany"}]},{"given":"H E","family":"Meijers-Heijboer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"F","family":"Hofstede","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands"}]},{"given":"D","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Paediatric Genetics, Sheffield Children's Hospital, Sheffield, UK"}]},{"given":"S G","family":"Kant","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"}]},{"given":"L","family":"Lion-Francois","sequence":"additional","affiliation":[{"name":"Service de neurologie p\u00e9diatrique, H\u00f4pital Femme M\u00e8re Enfant, Lyon, France"}]},{"given":"G","family":"Pitelet","sequence":"additional","affiliation":[{"name":"Service de neurologie p\u00e9diatrique, H\u00f4pital Femme M\u00e8re Enfant, Lyon, France"}]},{"given":"N","family":"Longo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA"}]},{"given":"J A","family":"Maat-Kievit","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"}]},{"given":"J P","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Development Center Torrado da Silva, Garcia de Orta Hospital, Almada, Portugal"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Unit\u00e9 de Recherches sur les Handicaps G\u00e9n\u00e9tiques de l'Enfant, H\u00f4pital des Enfants Malades, Paris, France"}]},{"given":"A C","family":"Muntau","sequence":"additional","affiliation":[{"name":"Abteilung f\u00fcr Molekulare Paediatrie, Dr. von Haunersches Kinderspital, M\u00fcnchen, Germany"}]},{"given":"M C","family":"Nassogne","sequence":"additional","affiliation":[{"name":"Departement de Neurologie p\u00e9diatrique, Universit\u00e9 Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium"}]},{"given":"H","family":"Osaka","sequence":"additional","affiliation":[{"name":"Division of Neurology Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan"}]},{"given":"K","family":"Ounap","sequence":"additional","affiliation":[{"name":"Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia"}]},{"given":"J M","family":"Pinard","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Neurologie P\u00e9diatrique, D\u00e9partement de P\u00e9diatrie, H\u00f4pital Raymond Poincare, Paris-IdF-Ouest University, Paris, France"}]},{"given":"S","family":"Quijano-Roy","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Neurologie P\u00e9diatrique, D\u00e9partement de P\u00e9diatrie, H\u00f4pital Raymond Poincare, Paris-IdF-Ouest University, Paris, France"}]},{"given":"I","family":"Poggenburg","sequence":"additional","affiliation":[{"name":"Department of Neurop\u00e4diatrie, Klinikum Oldenburg, Oldenburg, Germany"}]},{"given":"N","family":"Poplawski","sequence":"additional","affiliation":[{"name":"South Australia Clinical Genetics Service, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, North-Adelaide, Australia"}]},{"given":"O","family":"Abdul-Rahman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA"}]},{"given":"A","family":"Ribes","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo-IBC, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic, Ciberer, Barcelona, Spain"}]},{"given":"A","family":"Arias","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Errores Cong\u00e9nitos del Metabolismo-IBC, Servicio de Bioqu\u00edmica y Gen\u00e9tica Molecular, Hospital Cl\u00ednic, Ciberer, Barcelona, Spain"}]},{"given":"J","family":"Yaplito-Lee","sequence":"additional","affiliation":[{"name":"Department of Metabolic Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia"}]},{"given":"A","family":"Schulze","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada"}]},{"given":"C E","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Center of Molecular Studies, Greenwood Genetic Center, Greenwood, South Carolina, USA"}]},{"given":"S","family":"Schwenger","sequence":"additional","affiliation":[{"name":"Department of P\u00e4diatrie, Kinderzentrum M\u00fcnchen, M\u00fcnchen, Germany"}]},{"given":"G","family":"Soares","sequence":"additional","affiliation":[{"name":"Unidade Gen\u00e9tica M\u00e9dica, Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es, Porto, Portugal"}]},{"given":"Y","family":"Sznajer","sequence":"additional","affiliation":[{"name":"Centre de g\u00e9n\u00e9tique humaine, Cliniques Universitaires Saint-Luc, Brussels, Belgium"}]},{"given":"V","family":"Valayannopoulos","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital and Paris Descartes University, Paris, France"}]},{"given":"H","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Department of Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium"}]},{"given":"S","family":"Waltz","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, City Hospital Cologne, Cologne, Germany"}]},{"given":"M M C","family":"Wamelink","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"P J W","family":"Pouwels","sequence":"additional","affiliation":[{"name":"Department of Physics and Medical Technology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"A","family":"Errami","sequence":"additional","affiliation":[{"name":"MRC Holland BV, Amsterdam, The Netherlands"}]},{"given":"M S","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"C","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]},{"given":"G M","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"}]},{"given":"G S","family":"Salomons","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands"}]}],"member":"239","published-online":{"date-parts":[[2013,5,3]]},"reference":[{"key":"2025100511324815000_50.7.463.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.79"},{"key":"2025100511324815000_50.7.463.2","doi-asserted-by":"publisher","DOI":"10.1086\/320595"},{"key":"2025100511324815000_50.7.463.3","doi-asserted-by":"publisher","DOI":"10.1086\/422102"},{"key":"2025100511324815000_50.7.463.4","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-200508000-00003"},{"key":"2025100511324815000_50.7.463.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2007.07.010"},{"key":"2025100511324815000_50.7.463.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0162-9"},{"key":"2025100511324815000_50.7.463.7","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000239153.39710.81"},{"key":"2025100511324815000_50.7.463.8","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-36743"},{"key":"2025100511324815000_50.7.463.9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10246"},{"key":"2025100511324815000_50.7.463.10","doi-asserted-by":"publisher","DOI":"10.1086\/340092"},{"key":"2025100511324815000_50.7.463.11","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024405821638"},{"key":"2025100511324815000_50.7.463.12","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0123-4"},{"key":"2025100511324815000_50.7.463.13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30473"},{"key":"2025100511324815000_50.7.463.14","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0002-4"},{"key":"2025100511324815000_50.7.463.15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00489.x"},{"key":"2025100511324815000_50.7.463.16","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0212-4"},{"key":"2025100511324815000_50.7.463.17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01148.x"},{"key":"2025100511324815000_50.7.463.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31827"},{"key":"2025100511324815000_50.7.463.19","doi-asserted-by":"publisher","DOI":"10.1007\/s10334-008-0137-z"},{"key":"2025100511324815000_50.7.463.20","doi-asserted-by":"crossref","unstructured":"Puusepp H Kall K Salomons G Talvik I Mannamaa M Rein R Jakobs C Ounap K . The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. J Inherit Metab Dis Online 2009 Jan 10 doi:http:\/\/link.springer.com\/article\/10.1007\/s10545-008-1063-y.","DOI":"10.1007\/s10545-008-1063-y"},{"key":"2025100511324815000_50.7.463.21","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0902-1"},{"key":"2025100511324815000_50.7.463.22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02142.x"},{"key":"2025100511324815000_50.7.463.23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.10.186"},{"key":"2025100511324815000_50.7.463.24","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1083-2"},{"key":"2025100511324815000_50.7.463.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.08.016"},{"key":"2025100511324815000_50.7.463.26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33551"},{"key":"2025100511324815000_50.7.463.27","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809352109"},{"key":"2025100511324815000_50.7.463.28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.11.005"},{"key":"2025100511324815000_50.7.463.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.10.005"},{"key":"2025100511324815000_50.7.463.30","doi-asserted-by":"crossref","first-page":"2446","DOI":"10.1002\/ajmg.a.34208","article-title":"Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability","volume":"155A","author":"Mencarelli","year":"2011","journal-title":"Am J Med Genet A"},{"key":"2025100511324815000_50.7.463.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.018"},{"key":"2025100511324815000_50.7.463.32","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03480.x"},{"key":"2025100511324815000_50.7.463.33","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000310987.04106.45"},{"key":"2025100511324815000_50.7.463.34","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-43"},{"key":"2025100511324815000_50.7.463.35","doi-asserted-by":"publisher","DOI":"10.1080\/13554790802060821"},{"key":"2025100511324815000_50.7.463.36","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022487218904"},{"key":"2025100511324815000_50.7.463.37","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":"2025100511324815000_50.7.463.38","doi-asserted-by":"publisher","DOI":"10.1002\/syn.20280"},{"key":"2025100511324815000_50.7.463.39","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.134"},{"key":"2025100511324815000_50.7.463.40","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.12.022"},{"key":"2025100511324815000_50.7.463.41","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20532"},{"key":"2025100511324815000_50.7.463.42","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9358-9"},{"key":"2025100511324815000_50.7.463.43","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.05.001"},{"key":"2025100511324815000_50.7.463.44","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9345-1"},{"key":"2025100511324815000_50.7.463.45","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01460.x"},{"key":"2025100511324815000_50.7.463.46","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000234852.43688.bf"},{"key":"2025100511324815000_50.7.463.47","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.05.032"},{"key":"2025100511324815000_50.7.463.48","first-page":"336","article-title":"Acute creatine loading enhances human growth hormone secretion","volume":"40","author":"Schedel","year":"2000","journal-title":"J Sports Med Phys Fitness"},{"key":"2025100511324815000_50.7.463.49","doi-asserted-by":"crossref","first-page":"8418","DOI":"10.1016\/S0021-9258(18)52891-X","article-title":"A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression","volume":"268","author":"Guimbal","year":"1993","journal-title":"J Biol Chem"},{"key":"2025100511324815000_50.7.463.50","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2004.02437.x"},{"key":"2025100511324815000_50.7.463.51","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1017\/S0952523800006775","article-title":"Na(+)- and Cl(-)-dependent neurotransmitter transporters in bovine retina: identification and localization by in situ hybridization histochemistry","volume":"12","author":"Jones","year":"1995","journal-title":"Vis Neurosci"},{"issue":"1 Suppl","key":"2025100511324815000_50.7.463.52","first-page":"I16","article-title":"Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis","volume":"114","author":"Cullen","year":"2006","journal-title":"Circulation"},{"key":"2025100511324815000_50.7.463.53","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh112"},{"key":"2025100511324815000_50.7.463.54","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20222"},{"key":"2025100511324815000_50.7.463.55","doi-asserted-by":"publisher","DOI":"10.1023\/B:MCBI.0000038213.15646.4a"},{"key":"2025100511324815000_50.7.463.56","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0016187"},{"key":"2025100511324815000_50.7.463.57","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.10.022"},{"key":"2025100511324815000_50.7.463.58","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(03)02547-2"},{"key":"2025100511324815000_50.7.463.59","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2004.03478.x"},{"key":"2025100511324815000_50.7.463.60","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.08.004"},{"key":"2025100511324815000_50.7.463.61","doi-asserted-by":"crossref","unstructured":"Carducci C Carducci C Santagata S Adriano E Artiola C Thellung S Gatta E Robello M Florio T Antonozzi I Leuzzi V Balestrino M . In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes. BMC Neurosci 2012;13:41.","DOI":"10.1186\/1471-2202-13-41"},{"key":"2025100511324815000_50.7.463.62","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9537-3"},{"key":"2025100511324815000_50.7.463.63","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1008"},{"key":"2025100511324815000_50.7.463.64","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.06.021"},{"key":"2025100511324815000_50.7.463.65","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0478-2"},{"key":"2025100511324815000_50.7.463.66","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0125-5"},{"key":"2025100511324815000_50.7.463.67","doi-asserted-by":"publisher","DOI":"10.1172\/JCI59373"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmedgenet-2013-101658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:32:52Z","timestamp":1759689172000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmedgenet-2013-101658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,3]]},"references-count":67,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2013,6,11]]},"published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1136\/jmedgenet-2013-101658"],"URL":"https:\/\/doi.org\/10.1136\/jmedgenet-2013-101658","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,3]]}}}