Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
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Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
Plasma and urine free and acyl carnitine were measured in 19 children with nephropathic cystinosis and renal Fanconi syndrome. Each patient exhibited a deficiency of plasma free carnitine (mean 11.7 +/- 4.0 [SD] nmol/ml) compared with normal control values (42.0 +/- 9.0 nmol/ml) (P less than 0.001). Mean plasma acyl carnitine in the cystinotic subjects was normal. Four subjects with Fanconi syn...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1985
ISSN: 0021-9738
DOI: 10.1172/jci111806