Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

Barratt, T M

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child. [electronic resource] - Archives of disease in childhood Jan 1979 - 25-31 p. digital

Publication Type: Case Reports; Journal Article

1468-2044

10.1136/adc.54.1.25 doi


Adenine--analysis
Adenine Phosphoribosyltransferase--deficiency
Adult
Allopurinol--therapeutic use
Child
Diagnosis, Differential
Female
Humans
Infant
Kidney Calculi--genetics
Male
Pedigree
Pentosyltransferases--deficiency
Purines--urine