Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency.
Simmonds
H A
HA
Purine Research Laboratory, UMDS Guy's Hospital, Siena, Italy.
Micheli
V
V
Duley
J A
JA
Fairbanks
L D
LD
Hopkinson
D A
DA
Levinsky
R J
RJ
D000243:Adenosine Deaminase / Q000097:blood* / Q000172:deficiency / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009700:Nucleoside Deaminases / Q000097:blood*; D010375:Pedigree; D011755:Pyrophosphatases / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D000097630:Inosine Triphosphatase
D000243:Adenosine Deaminase; D009700:Nucleoside Deaminases; D011755:Pyrophosphatases; D000097630:Inosine Triphosphatase