Schmidt, Bernhard

[["dc.bibliographiccitation.firstpage","914"],["dc.bibliographiccitation.journal","American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","922"],["dc.bibliographiccitation.volume","58"],["dc.contributor.author","Stockler, Sylvia"],["dc.contributor.author","Isbrandt, Dirk"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Schmidt, Bernhard"],["dc.contributor.author","Figura, Kurt von"],["dc.date.accessioned","2019-07-10T08:12:46Z"],["dc.date.available","2019-07-10T08:12:46Z"],["dc.date.issued","1996"],["dc.description.abstract","In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver. Two mutant GAMT alleles were identified that carried a single base substitution within a 5' splice site or a 13-nt insertion and gave rise to four mutant transcripts. Three of the transcripts encode truncated polypeptides that lack a residue known to be critical for catalytic activity of GAMT. Deficiency of GAMT is the first inborn error of creatine metabolism. It causes a severe developmental delay and extrapyramidal symptoms in early infancy and is treatable by oral substitution with creatine."],["dc.format.mimetype","application/pdf"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?goescholar/3442"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/61031"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.publisher","Cell Press"],["dc.relation.issn","0002-9297"],["dc.rights","Goescholar"],["dc.rights.access","openAccess"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject","Guanidinoacetate methyltransferase deficiency"],["dc.subject.ddc","610"],["dc.title","Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]