Lesch-Nyhan syndrome: reduced amino acid concentrations in CSF and brain.
Harkness
R A
RA
Division of Inherited Metabolic Diseases, MRC Clinical Research Centre, Harrow, UK.
D000596:Amino Acids / Q000134:cerebrospinal fluid*; D001921:Brain / Q000378:metabolism*; D003540:Cystathionine / Q000134:cerebrospinal fluid; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000134:cerebrospinal fluid* / Q000172:deficiency; D007926:Lesch-Nyhan Syndrome / Q000134:cerebrospinal fluid / Q000378:metabolism*; D005680:gamma-Aminobutyric Acid / Q000134:cerebrospinal fluid
D000596:Amino Acids; D003540:Cystathionine; D005680:gamma-Aminobutyric Acid; D007041:Hypoxanthine Phosphoribosyltransferase