The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features
نویسندگان
چکیده
منابع مشابه
Systemic primary carnitine deficiency with hypoglycemic encephalopathy
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria...
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15 صفحه اولRetinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.
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ژورنال
عنوان ژورنال: Neurology
سال: 1975
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.25.1.16