{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T03:17:10Z","timestamp":1768015030282,"version":"3.49.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"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":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1016\/j.spen.2012.09.007","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T20:04:31Z","timestamp":1355429071000},"page":"203-210","source":"Crossref","is-referenced-by-count":31,"title":["Patterns of Brain Injury in Inborn Errors of Metabolism"],"prefix":"10.1016","volume":"19","author":[{"given":"Andrea L.","family":"Gropman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.spen.2012.09.007_bib1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-006-0358-0","article-title":"Clinical approach to treatable inborn metabolic diseases: An introduction","volume":"29","author":"Saudubray","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.spen.2012.09.007_bib2","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1146\/annurev.neuro.30.051606.094345","article-title":"Neuron-glial interactions in blood-brain barrier formation","volume":"30","author":"Banerjee","year":"2007","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.spen.2012.09.007_bib3","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/nrn1824","article-title":"Astrocyte-endothelial interactions at the blood-brain barrier","volume":"7","author":"Abbott","year":"2006","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.spen.2012.09.007_bib4","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0065-3101(24)00072-0","article-title":"Urea cycle disorders: Diagnosis, pathophysiology, and therapy","volume":"43","author":"Brusilow","year":"1996","journal-title":"Adv Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib5","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000469211","article-title":"Treatment of urea cycle disorders","volume":"38","author":"Batshaw","year":"1987","journal-title":"Enzyme"},{"key":"10.1016\/j.spen.2012.09.007_bib6","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1056\/NEJM198406073102304","article-title":"Neurologic outcome in children with inborn errors of urea synthesis.Outcome of urea-cycle enzymopathies","volume":"310","author":"Msall","year":"1984","journal-title":"N Engl J Med"},{"key":"10.1016\/j.spen.2012.09.007_bib7","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0022-3476(86)80989-1","article-title":"Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency","volume":"108","author":"Batshaw","year":"1986","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib8","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1097\/00005792-199811000-00005","article-title":"The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency","volume":"77","author":"Maestri","year":"1998","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.spen.2012.09.007_bib9","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ana.10794","article-title":"Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency","volume":"55","author":"Gyato","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2012.09.007_bib10","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1055\/s-2007-1007237","article-title":"Astrocytic-ammonia interactions in hepatic encephalopathy","volume":"16","author":"Norenberg","year":"1996","journal-title":"Semin Liver Dis"},{"key":"10.1016\/j.spen.2012.09.007_bib11","first-page":"H825","article-title":"Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats","volume":"261","author":"Takahashi","year":"1991","journal-title":"Am J Physiol"},{"issue":"suppl 1","key":"10.1016\/j.spen.2012.09.007_bib12","doi-asserted-by":"crossref","first-page":"S97","DOI":"10.1016\/j.ymgme.2010.01.014","article-title":"Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium","volume":"100","author":"Seminara","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2012.09.007_bib13","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ymgme.2008.06.003","article-title":"1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency","volume":"95","author":"Gropman","year":"2008","journal-title":"Mol Genet Metab"},{"issue":"6","key":"10.1016\/j.spen.2012.09.007_bib14","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1542\/peds.109.6.999","article-title":"Diagnosis and treatment of maple syrup disease: A study of 36 patients","volume":"109","author":"Morton","year":"2002","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2012.09.007_bib15","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0022-3476(05)81036-4","article-title":"Cerebral edema causing death in children with maple syrup urine disease","volume":"119","author":"Riviello","year":"1991","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib16","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ymgme.2004.01.016","article-title":"Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease","volume":"82","author":"Schonberger","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2012.09.007_bib17","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s10545-011-9333-5","article-title":"Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy","volume":"35","author":"Zinnanti","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.spen.2012.09.007_bib18","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1111\/j.1468-1331.2008.02425.x","article-title":"Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease","volume":"16","author":"Sutter","year":"2009","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.spen.2012.09.007_bib19","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1590\/S0004-282X2009000400033","article-title":"Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn","volume":"67","author":"Ferraz-Filho","year":"2009","journal-title":"Arq Neuropsiquiatr"},{"key":"10.1016\/j.spen.2012.09.007_bib20","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s00234-003-0955-7","article-title":"MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation","volume":"45","author":"Jan","year":"2003","journal-title":"Neuroradiology"},{"key":"10.1016\/j.spen.2012.09.007_bib21","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/ana.410330412","article-title":"Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy","volume":"33","author":"Felber","year":"1993","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2012.09.007_bib22","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/glia.20072","article-title":"Evidence that the branched-chain alpha-keto acids accumulating in maple syrup urine disease induce morphological alterations and death in cultured astrocytes from rat cerebral cortex","volume":"48","author":"Funchal","year":"2004","journal-title":"Glia"},{"key":"10.1016\/j.spen.2012.09.007_bib23","first-page":"675","article-title":"CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients","volume":"16","author":"Brismar","year":"1995","journal-title":"American Journal of Neuroradiology"},{"key":"10.1016\/j.spen.2012.09.007_bib24","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s00247-003-0956-z","article-title":"Neuroimaging findings in glutaric aciduria type 1","volume":"33","author":"Twomey","year":"2003","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.spen.2012.09.007_bib25","first-page":"1869","article-title":"Correlation of early dynamic CT perfusion imaging with whole-brain MR diffusion and perfusion imaging in acute hemispheric stroke","volume":"24","author":"Eastwood","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.spen.2012.09.007_bib26","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/j.neuint.2004.05.001","article-title":"Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats","volume":"45","author":"Rosa","year":"2004","journal-title":"Neurochem Int"},{"key":"10.1016\/j.spen.2012.09.007_bib27","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/S0022-3476(81)80004-2","article-title":"Propionic acidemia: A clinical update","volume":"99","author":"Wolf","year":"1981","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib28","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1001\/archneur.56.9.1143","article-title":"Neurologic nonmetabolic presentation of propionic acidemia","volume":"56","author":"Nyhan","year":"1999","journal-title":"Arch Neurol"},{"key":"10.1016\/j.spen.2012.09.007_bib29","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1542\/peds.27.4.522","article-title":"Idiopathic hyperglycinemia and hyperglycinuria: A new disorder of amino acid metabolism I","volume":"27","author":"Childs","year":"1961","journal-title":"Pediatrics"},{"key":"10.1016\/j.spen.2012.09.007_bib30","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0022-3476(96)70162-2","article-title":"Primary treatment of propionic acidemia complicated by acute thiamine deficiency","volume":"129","author":"Matern","year":"1996","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib31","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/S0022-3476(81)80004-2","article-title":"Propionic acidemia: A clinical update","volume":"99","author":"Wolf","year":"1981","journal-title":"J.Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib32","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/0887-8994(92)90085-D","article-title":"Neurologic outcome of propionic acidemia","volume":"8","author":"Surtees","year":"1992","journal-title":"Pediatr.Neurol"},{"key":"10.1016\/j.spen.2012.09.007_bib33","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1016\/S0022-3476(95)70208-3","article-title":"Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management","volume":"126","author":"North","year":"1995","journal-title":"J.Pediatr"},{"key":"10.1016\/j.spen.2012.09.007_bib34","first-page":"1459","article-title":"CT and MR of the brain in disorders of the propionate and methylmalonate metabolism","volume":"15","author":"Brismar","year":"1994","journal-title":"AJNR"},{"key":"10.1016\/j.spen.2012.09.007_bib35","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1002\/1522-2586(200006)11:6<596::AID-JMRI4>3.0.CO;2-P","article-title":"Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia","volume":"11","author":"Chemelli","year":"2000","journal-title":"J.Magn Reson.Imaging"},{"key":"10.1016\/j.spen.2012.09.007_bib36","first-page":"2","article-title":"Methylmalonic acidemia (MMA)","volume":"85","author":"Tanpaiboon","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2012.09.007_bib37","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1007\/s00247-008-0940-8","article-title":"Methylmalonic acidemia: Brain imaging findings in 52 children and a review of the literature","volume":"38","author":"Radmanesh","year":"2008","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.spen.2012.09.007_bib38","first-page":"945","article-title":"Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia","volume":"122","author":"Gao","year":"2009","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.spen.2012.09.007_bib39","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0009-9120(91)80008-Q","article-title":"Phenylketonuria: Screening, treatment and maternal PKU","volume":"24","author":"Matalon","year":"1991","journal-title":"Clin Biochem"},{"key":"10.1016\/j.spen.2012.09.007_bib40","doi-asserted-by":"crossref","unstructured":"White DA, Connor LT, Nardos B, et al: Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: A DTI study of the corpus callosum. Mol Genet Metab; 99suppl 1:S41-46, 2010.","DOI":"10.1016\/j.ymgme.2009.09.016"},{"key":"10.1016\/j.spen.2012.09.007_bib41","doi-asserted-by":"crossref","unstructured":"Anderson PJ, Leuzzi V: White matter pathology in phenylketonuria. Mol Genet Metab; 99 suppl 1:S3-S9, 2010","DOI":"10.1016\/j.ymgme.2009.10.005"},{"key":"10.1016\/j.spen.2012.09.007_bib42","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1002\/jmri.21289","article-title":"MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients","volume":"27","author":"Ding","year":"2008","journal-title":"J Magn Reson Imaging"},{"key":"10.1016\/j.spen.2012.09.007_bib43","doi-asserted-by":"crossref","unstructured":"Braissant O, Henry H: AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review. J Inherit Metab Dis 2008[Epub ahead of print]","DOI":"10.1007\/s10545-008-0826-9"},{"issue":"5","key":"10.1016\/j.spen.2012.09.007_bib44","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.spen.2012.09.007_bib45","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.spen.2012.09.007_bib46","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1002\/mrm.10627","article-title":"MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (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.spen.2012.09.007_bib47","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1080\/13554790802060821","article-title":"Treatment with l-arginine improves neuropsychological disorders in a child with creatine transporter defect","volume":"14","author":"Chilosi","year":"2008","journal-title":"Neurocase"},{"issue":"4","key":"10.1016\/j.spen.2012.09.007_bib48","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"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909112000757?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909112000757?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T09:04:36Z","timestamp":1714727076000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909112000757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":48,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["S1071909112000757"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2012.09.007","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}