title: Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency.
authors.affiliation: Purine Research Laboratory, UMDS Guy's Hospital, Siena, Italy.
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: V
authors.initials: V
authors.lastname: Micheli
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: L D
authors.initials: LD
authors.lastname: Fairbanks
authors.forename: D A
authors.initials: DA
authors.lastname: Hopkinson
authors.forename: R J
authors.initials: RJ
authors.lastname: Levinsky
mesh_terms: 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
chemical_list: D000243:Adenosine Deaminase; D009700:Nucleoside Deaminases; D011755:Pyrophosphatases; D000097630:Inosine Triphosphatase