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Neuropediatrics. 1985 May;16(2):106-8.

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.

Abstract

A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells.

PMID:
2989725
DOI:
10.1055/s-2008-1052552
[Indexed for MEDLINE]
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