[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease].
Two brothers and a sister suffering from homocystinuria caused by cystathionine beta-synthase deficiency and the possibilities of treatment are presented. Possible clinical variability, the necessity for early diagnosis and the importance of hyperhomocysteinemia as a risk factor for early-onset vascular disease are discussed.
Klinika za pedijatriju Medicinskog fakulteta, Klinicki bolnicki centar Zagreb.
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I
Barić
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Barisić
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N
Blau
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D
Mardesić
D002648:Child; D002675:Child, Preschool; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D008297:Male; D012307:Risk Factors; D013927:Thrombosis / Q000209:etiology*
D006710:Homocysteine
Homocistinurija: prikaz bolesnika uz osvrt na hiperhomocisteinemiju kao faktor rizika za ranu pojavu bolesti krvnih zila.