Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy.
Haworth
J C
JC
Department of Pediatrics and Child Health, Children's Hospital, Winnipeg, Manitoba, Canada.
Seargeant
L E
LE
Dilling
L A
LA
D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology / Q000652:urine*; D005260:Female; D006529:Hepatomegaly / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D013163:Splenomegaly / Q000473:pathology
C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine