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Homocystinuria
Translation of "homocystinuria" into Russian
homocystinuria
Noun
homocystinuria
homocystinurias pl
Homocystinuria is a rare genetic disorder.
Гомоцистинурия - это редкое генетическое заболевание.
Definitions
homocystinuria
Noun
A rare genetic disorder characterized by the accumulation of homocysteine in the urine and blood, often leading to developmental delays, skeletal abnormalities, and cardiovascular issues.
The doctor diagnosed the child with homocystinuria after observing elevated levels of homocysteine in the blood tests.
The presence of abnormally high levels of homocysteine in the urine, regarded as a biochemical finding rather than the disease itself.
Routine screening revealed homocystinuria long before any clinical symptoms appeared.
Idioms and phrases
homocystinuria screening
The hospital offers routine homocystinuria screening for newborns.
скрининг на гомоцистинурию
Больница предлагает регулярный скрининг на гомоцистинурию для новорожденных.