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: Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
    Author: Campana G, Valentini G, Legnaioli MI, Giovannucci-Uzielli ML, Pavari E.
    Journal: Ophthalmic Paediatr Genet; 1987 Jun; 8(2):125-9. PubMed ID: 3658339.
    Abstract:
    There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of holocarboxylase-synthetase. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to biotinidase deficiency. It is the purpose of this report to describe a patient with biotinidase deficiency who presents bilateral optic atrophy. The dosage of biotinidase enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.
    [Abstract] [Full Text] [Related] [New Search]