Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

• Главные авторы: Armstrong Dawna L (Автор), Towbin Jeffrey A (Автор), Scheuerle Angela E (Автор), Scaglia Fernando (Автор), Sweetman Lawrence (Автор), Wong Lee-Jun C (Автор)
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• Опубликовано: BMC, 2002-12-01T00:00:00Z.
• Предметы: article
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<p>Abstract</p> <p>Background</p> <p>Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxid...