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Related Experiment Videos

[Mannosidosis: a simple diagnosis]

J P Farriaux, G Fontaine

    Archives Francaises De Pediatrie
    |January 1, 1976
    PubMed
    Summary

    Mannosidosis is a rare genetic disorder. Diagnosis involves identifying facial changes, bone issues, and specific blood abnormalities, confirmed by detecting mannose oligosaccharides and alpha-D-mannosidase deficiency.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Mannosidosis is an emerging and infrequent lysosomal storage disorder.
    • It is characterized by the accumulation of mannose-rich oligosaccharides in various tissues.