Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening
Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to abnormalities in the skeletal, cardiovascular, ophth...
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| Main Authors: | , , , , |
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| Format: | Book |
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MDPI AG,
2021-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |