choroba čiernych kostí defekt oxidázy kyseliny homogentisovej deficit oxidázy kyseliny homogentisovej nedostatok oxidázy kyseliny homogentisovej acidúria kyseliny homogentisovej homogentisúria acidúria homogentisová
Scope note in English
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
See also reference (FX) in Slovak
homogentizát 1,2-dioxygenáza
See also reference (FX) in English
Homogentisate 1,2-Dioxygenase
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openseadragon
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