The spectrum of HGPRT deficiency. Clinical experience based on 20 patients from 16 Spanish families.
Puig
J G
JG
Division of Internal Medicine, La Paz Hospital, Universidad Autónoma, Madrid, Spain.
Torres
R J
RJ
Mateos
F A
FA
Arcas
J
J
Buño
A
A
Pascual-Castroviejo
I
I
D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000503:physiopathology*; D013030:Spain; D013577:Syndrome
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase