These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.
    Author: Simmonds HA, Webster DR, Lingam S, Wilson J.
    Journal: Neuropediatrics; 1985 May; 16(2):106-8. PubMed ID: 2989725.
    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.
    [Abstract] [Full Text] [Related] [New Search]