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Related Experiment Videos

Citrullinemia.

J Leibowitz, J Thoene, E Spector

    Virchows Archiv. A, Pathological Anatomy and Histology
    |March 10, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Neonatal citrullinemia treatment with alpha keto-analogues improved outcomes, reducing severe brain and liver pathology. Untreated infants experienced rapid decline, indicating potential in utero damage.

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    Area of Science:

    • Biochemistry
    • Pediatric Pathology
    • Metabolic Disorders

    Background:

    • Neonatal citrullinemia is a rare urea cycle disorder.
    • It leads to hyperammonemia and severe neurological damage.
    • Early diagnosis and intervention are critical.