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beta-manozidóza

  1. Subject h.beta-manozidóza
    Subject h.beta-Mannosidosis
    Entry termsmanozidóza beta A, lyzozómová
    English X referencesMannosidosis, beta A, Lysosomal
    Scope note in EnglishAn inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
    See also reference (FX) in Slovak beta-manozidáza
    See also reference (FX) in English beta-Mannosidase
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    (1) - MeSH descriptor
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Number of the records: 1  

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