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fenylketonúrie

  1. Subject h.fenylketonúrie
    Subject h.Phenylketonurias
    Entry termsdeficiencia biopterínu
    BH4 deficiencia
    deficiencia tetrahydropterínu
    DHPR deficiencia
    PAH deficiencia
    QDPR deficiencia
    HPABH4C
    PKU, atypická
    fenylketonúria
    fenylketonúria I
    fenylketonúria II
    fenylketonúria, typ 2
    fenylketonúria druhého typu
    fenylketonúria klasická
    fenylketonúria atypická
    Föllingova choroba
    choroba z deficitu dihydropteridín reduktázy
    deficit quinoid-dihydropteridín reduktázy
    hyperfenylalaninémia nefenylketonurická
    choroba z deficitu fenylalanín hydroxylázy
    deficit fenylalanín hydroxylázy
    deficiencia fenylalanín hydroxylázy
    choroba z deficitu fenylalanín hydroxylázy, ťažká
    hyperfenylalaninémia
    hyperfenylalaninémia spôsobená poruchou metabolizmu biopterínu
    hyperfenylalaninémia, BH4-deficientná, C
    hyperfenylalaninémia, tetrahydrobiopterín-deficientná, z dôvodu deficiencie DHPR
    oligophrenia phenylpyruvica
    English X referencesBiopterin Deficiency
    Dihydropteridine Reductase Deficiency Disease
    Hyperphenylalaninemia, Non-Phenylketonuric
    Phenylalanine Hydroxylase Deficiency Disease
    Scope note in EnglishA group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
    See also reference (FX) in Slovak dihydropteridínreduktáza
    fenylalanínhydroxyláza
    See also reference (FX) in English Dihydropteridine Reductase
    Phenylalanine Hydroxylase
    Links (71) - ARTICLES
    (3) - MeSH descriptor
    (13) - CiBaMed
    (13) - BOOKS
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Number of the records: 1  

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