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alfa-manozidóza

  1. Subject h.alfa-manozidóza
    Subject h.alpha-Mannosidosis
    Entry termsmanozidóza alfa B, lyzozómová
    manozidóza, alfa B, lyzozomálna
    deficit alfa-manozidázy
    deficit lyzozomálnej alfa-D manozidázy
    deficit alfa-manozidázy B
    alfa-manozidóza, typ 1
    alfa-D-manozidóza
    English X referencesMannosidosis, alpha B, Lysosomal
    Scope note in EnglishAn inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
    See also reference (FX) in Slovak alfa-manozidáza
    See also reference (FX) in English alpha-Mannosidase
    Links (1) - ARTICLES
    (1) - MeSH descriptor
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Number of the records: 1  

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