Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

• Главные авторы: Alexander Asamoah (Автор), Sainan Wei (Автор), Kelly E. Jackson (Автор), Joseph H. Hersh (Автор), Harvey Levy (Автор)
• Формат: ‌
• Опубликовано: MDPI AG, 2021-07-01T00:00:00Z.
• Предметы: article
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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...