TY  - GEN
AU  - Barratt,T M
AU  - Simmonds,H A
AU  - Cameron,J S
AU  - Potter,C F
AU  - Rose,G A
AU  - Arkell,D G
AU  - Williams,D I
TI  - Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child
SN  - 1468-2044
PY  - 1979///0425
KW  - Adenine
KW  - analysis
KW  - Adenine Phosphoribosyltransferase
KW  - deficiency
KW  - Adult
KW  - Allopurinol
KW  - therapeutic use
KW  - Child
KW  - Diagnosis, Differential
KW  - Female
KW  - Humans
KW  - Infant
KW  - Kidney Calculi
KW  - genetics
KW  - Male
KW  - Pedigree
KW  - Pentosyltransferases
KW  - Purines
KW  - urine
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/adc.54.1.25
ER  -