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    Am J Ophthalmol. 1976 Sep;82(3):465-71.

    Ocular findings in mannosidosis.

    Arbisser AI, Murphree AL, Garcia CA, Howell RR.

    Abstract

    Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.

    PMID:
    961797
    [PubMed - indexed for MEDLINE]

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      Cited by 1 PubMed Central article

      • Review Alpha-mannosidosis. [Orphanet J Rare Dis. 2008]
        Review Alpha-mannosidosis.
        Malm D, Nilssen Ø. Orphanet J Rare Dis. 2008 Jul 23; 3:21. Epub 2008 Jul 23.

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