Number of the records: 1  

alfa-manozidóza

  1. Record numberd008363
    Date06.06.2025
    TypeM - MESH
    Topical termalfa-manozidóza
    Other termEnglish (Pseudonym) Mannosidosis, alpha B, Lysosomal
    Slovak (Pseudonym) manozidóza alfa B, lyzozómová
    Slovak (Pseudonym) manozidóza, alfa B, lyzozomálna
    Slovak (Pseudonym) deficit alfa-manozidázy
    Slovak (Pseudonym) deficit lyzozomálnej alfa-D manozidázy
    Slovak (Pseudonym) deficit alfa-manozidázy B
    Slovak (Pseudonym) alfa-manozidóza, typ 1
    Slovak (Pseudonym) alfa-D-manozidóza
    See also(Skutočné meno) alfa-manozidáza
    (Later heading) alfa-manozidáza
    UDCC16.320.565.202.607.500C16.320.565.595.577.500C18.452.648.202.607.500C18.452.648.595.577.500
    NoteAn 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.
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Number of the records: 1  

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