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: Late onset ornithine carbamoyl transferase deficiency in males.
    Author: Drogari E, Leonard JV.
    Journal: Arch Dis Child; 1988 Nov; 63(11):1363-7. PubMed ID: 3202644.
    Abstract:
    Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later childhood are described. There was wide variation in both the time of presentation and the symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.
    [Abstract] [Full Text] [Related] [New Search]