Aspartylglycosaminuria diagnosed by routine urine amino acid assay.
Rudy
J L
JL
Clin. Lab., Children's Medical Center of Dallas, TX 75235.
D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D003955:Diagnostic Tests, Routine; D005944:Glucosamine / Q000031:analogs & derivatives*; D006026:Glycoside Hydrolases / Q000172:deficiency; D006801:Humans
C000009:N-acetylglucosaminylasparagine; D006026:Glycoside Hydrolases; C023580:beta-aspartyl-N-acetylglucosaminidase; D005944:Glucosamine; D000117:Acetylglucosamine