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ENHydroxyprolinemia
Alias:
4-Hydroxy-L-Proline Oxidase Deficiency
Hyperhydroxyprolinemia
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Hydroxyprolinemia, also known as 4-hydroxy-l-proline oxidase deficiency, is related to hyperprolinemia and maple syrup urine disease. Affiliated tissues include liver and skin, and related phenotypes are intellectual disability and microscopic hematuria
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Basic Information
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MALACARDS
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MGI
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