Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.
Bernier
F P
FP
Department of Medical Genetics, University of Calgary, Canada.
Snyder
F F
FF
McLeod
D R
DR
D002648:Child; D005260:Female; D006130:Growth Disorders / Q000209:etiology*; D006801:Humans; D011752:Pyroglutamate Hydrolase / Q000172:deficiency*
D011752:Pyroglutamate Hydrolase