Review paper
Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children
Abstract
Carnitine transporter defect is characterized by severely reduced transport of carnitine into skeletal muscle, fibroblasts, and renal tubules. All children with dilated cardiomyopathy or hypoglycemia and coma should be evaluated for this transporter defect because it is readily amenable to therapy that results in prolonged prevention of cardiac failure. This article details the cases of 3 children who have carnitine transporter defect, 2 of whom...
Paper Details
Title
Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children
Published Date
Feb 1, 2000
Journal
Volume
139
Issue
2
Pages
s96 - s106
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