Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.
Hallett
R J
RJ
Dept of Paediatrics, St. Mary's Hospital, Portsmouth.
Cronin
S M
SM
Morgan
G
G
Duley
J A
JA
Fairbanks
L D
LD
Simmonds
H A
HA
D002644:Chickenpox / Q000150:complications; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000097:blood*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000097:blood*; D007223:Infant; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood* / Q000201:enzymology; D012016:Reference Values; D013577:Syndrome; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D011683:Purine-Nucleoside Phosphorylase