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: Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia.
    Author: Rodriguez-Budelli M, Kark P.
    Journal: Neurology; 1978 Dec; 28(12):1283-6. PubMed ID: 569787.
    Abstract:
    Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
    [Abstract] [Full Text] [Related] [New Search]