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Late-onset citrullinemia type I
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Disease definition
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
ORPHA:247573
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: produced/endorsed by FSMR(s)
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Research activities on this disease
- Research project(s) (48)
- Clinical trial(s) (2)
- Biobank(s) (9)
- Registry(ies) (30)
- Network of experts (8)
Newborn screening
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