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Hydroxyproline metabolism in two sisters with hydroxyprolinemia.

R A Roesel, P R Blankenship, W R Lynch

    Human Heredity
    |January 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    This study investigated hydroxyprolinemia, a disorder of hydroxyproline metabolism. Affected individuals showed impaired hydroxyproline breakdown due to hydroxyproline oxidase deficiency.

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    Area of Science:

    • Biochemistry
    • Human Genetics
    • Metabolic Disorders

    Background:

    • Hydroxyprolinemia is a rare genetic disorder affecting collagen metabolism.
    • Understanding hydroxyproline metabolism is crucial for diagnosing and managing related conditions.