Fatal cerebral edema associated with serine deficiency in CSF.
Keularts
Irene M L W
IM
Laboratory for Biochemical Genetics, Dept Clinical Genetics, Maastricht University Medical Center, P Debyelaan 25, 6229 HX Maastricht, The Netherlands. irene.keularts@mumc.nl
Leroy
Piet L J M
PL
Rubio-Gozalbo
Estela M
EM
Spaapen
Leo J M
LJ
Weber
Biene
B
Dorland
Bert
B
de Koning
Tom J
TJ
Verhoeven-Duif
Nanda M
NM
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*
D015415:Biomarkers; D001786:Blood Glucose; D007657:Ketone Bodies; D019344:Lactic Acid; D012694:Serine; D019289:Pyruvic Acid