Congenital glutamine deficiency with glutamine synthetase mutations.
Kölker
Stefan
S
Hoffmann
Georg F
GF
Okun
Jürgen G
JG
D000592:Amino Acid Metabolism, Inborn Errors / Q000134:cerebrospinal fluid*; D020739:Brain Diseases, Metabolic, Inborn / Q000134:cerebrospinal fluid*; D005974:Glutamate-Ammonia Ligase / Q000235:genetics; D005973:Glutamine / Q000134:cerebrospinal fluid* / Q000172:deficiency; D006801:Humans
D005973:Glutamine; D005974:Glutamate-Ammonia Ligase