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: Skin and conjunctival biopsies in infantile neuroaxonal dystrophy.
    Author: Martin JJ, Leroy JG, Libert J, van Eygen M, Logghe N.
    Journal: Acta Neuropathol; 1979 Mar 15; 45(3):247-51. PubMed ID: 442990.
    Abstract:
    The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significiantly to the diagnosis.
    [Abstract] [Full Text] [Related] [New Search]