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: [Cataract due to galactokinase deficiency in a premature infant].
    Author: Colin J, Voyer M, Thomas D, Schapira F, Satge P.
    Journal: Arch Fr Pediatr; 1976 Jan; 33(1):77-82. PubMed ID: 185981.
    Abstract:
    Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered.
    [Abstract] [Full Text] [Related] [New Search]