Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).
Korman
Stanley H
SH
Hadassah University Hospital, Jerusalem, Israel. korman@hadassah.org.il
Gutman
Alisa
A
D000927:Anticonvulsants / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use; D020739:Brain Diseases, Metabolic, Inborn / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003241:Consanguinity; D003937:Diagnosis, Differential; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D005998:Glycine / Q000134:cerebrospinal fluid; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D009460:Neurologic Examination / Q000187:drug effects; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000927:Anticonvulsants; D005998:Glycine