Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
Micheli
V
V
Dip. Biologia Molecolare, Università di Siena, Italia.
Pescaglini
M
M
Rocchigiani
M
M
Sestini
S
S
Jacomelli
G
G
Hayek
G
G
Pompucci
G
G
D000225:Adenine / Q000097:blood; D002250:Carbon Radioisotopes; D002648:Child; D004912:Erythrocytes / Q000378:metabolism*; D006801:Humans; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency*; D007042:Hypoxanthines / Q000097:blood; D007223:Infant; D008607:Intellectual Disability / Q000097:blood* / Q000201:enzymology; D008297:Male; D009243:NAD / Q000378:metabolism; D009249:NADP / Q000378:metabolism; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood* / Q000201:enzymology; D011743:Pyrimidines / Q000097:blood*; D011865:Radioisotope Dilution Technique; D012016:Reference Values; D012265:Ribonucleotides / Q000378:metabolism
D002250:Carbon Radioisotopes; D007042:Hypoxanthines; D011743:Pyrimidines; D012265:Ribonucleotides; D009243:NAD; D019271:Hypoxanthine; D009249:NADP; D007041:Hypoxanthine Phosphoribosyltransferase; D000225:Adenine