title: Fatal cerebral edema associated with serine deficiency in CSF.
authors.affiliation: Laboratory for Biochemical Genetics, Dept Clinical Genetics, Maastricht University Medical Center, P Debyelaan 25, 6229 HX Maastricht, The Netherlands. irene.keularts@mumc.nl
authors.forename: Irene M L W
authors.initials: IM
authors.lastname: Keularts
authors.forename: Piet L J M
authors.initials: PL
authors.lastname: Leroy
authors.forename: Estela M
authors.initials: EM
authors.lastname: Rubio-Gozalbo
authors.forename: Leo J M
authors.initials: LJ
authors.lastname: Spaapen
authors.forename: Biene
authors.initials: B
authors.lastname: Weber
authors.forename: Bert
authors.initials: B
authors.lastname: Dorland
authors.forename: Tom J
authors.initials: TJ
authors.lastname: de Koning
authors.forename: Nanda M
authors.initials: NM
authors.lastname: Verhoeven-Duif
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D001786:Blood Glucose / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D001929:Brain Edema / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D004734:Energy Metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007657:Ketone Bodies / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D020258:Neurotoxicity Syndromes / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000209:etiology*; D011237:Predictive Value of Tests; D019289:Pyruvic Acid / Q000378:metabolism; D012694:Serine / Q000097:blood / Q000134:cerebrospinal fluid* / Q000172:deficiency*
chemical_list: D015415:Biomarkers; D001786:Blood Glucose; D007657:Ketone Bodies; D019344:Lactic Acid; D012694:Serine; D019289:Pyruvic Acid