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A CASE OF LESCH NYHAN SYNDROME WITH DELAYED ONSET OF SELF MUTILATION: A search for abnormal biochemical, immunological and cell growth characteristics in fibroblasts and neurotransmitters in urine: 194
1985
Pediatric Research
A 4-yr old Arab gir1,referred for investigation of hypouricaemia and hypouricosuria discovered during studies for Coombes positive haemolytic anaemia,was found to excrete inosine, guanosine,deoxyinosine and deoxyguanosine in place of uric acid. The patient and a 10-month old brother were homozygous for purine nucleoside phosphorylase (PNP) deficiency. Three of the other four surviving siblings were heterozygotes,as were the parents who were first cousins. Another sibling had died of
doi:10.1203/00006450-198507000-00214
fatcat:orx4cwyrirbojotyq2eeha5eri