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homocystinúria

  1. Subject h.homocystinúria
    Subject h.Homocystinuria
    Entry termschoroba z deficitu cystationín-beta-syntázy
    choroba z nedostatku cystationín-beta-syntázy
    deficit CBS
    deficit cystationín-beta-syntázy
    English X referencesCBS Deficiency
    Cystathionine beta-Synthase Deficiency Disease
    Scope note in EnglishAutosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
    See also reference (FX) in Slovak cystationín-beta-syntáza
    See also reference (FX) in English Cystathionine beta-Synthase
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Number of the records: 1  

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