The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Puig
J G
JG
La Paz University Hospital, Division of Internal Medicine, Madrid, Spain.
Torres
R J
RJ
Mateos
F A
FA
Ramos
T
T
Buno
A S
AS
Arcas
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000503:physiopathology*; D008297:Male; D010375:Pedigree; D013030:Spain
D007041:Hypoxanthine Phosphoribosyltransferase