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ENHomocystinuria Caused by Cystathionine Beta-Synthase Deficiency
Alias:
Classic Homocystinuria
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Cystathionine Beta-Synthase Deficiency
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Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency, also known as classic homocystinuria, is related to homocystinuria due to cystathionine beta-synthase deficiency and orthostatic intolerance, and has symptoms including seizures An important gene associated with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency is CBS (Cystathionine Beta-Synthase). Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and abnormality of amino acid metabolism
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