Number of the records: 1  

Barthov syndróm

  1. Record numberd056889
    Date06.06.2025
    TypeM - MESH
    Topical termBarthov syndróm
    See also(Skutočné meno) komora ľavá nekompaktná izolovaná
    UDCC14.240.400.172C14.280.400.172C16.131.077.121C16.131.240.400.172C16.320.322.068C16.320.565.398.224C18.452.584.563.224C18.452.648.398.224
    NoteRare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all