Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy

Carnitine--metabolism and functions

1983 • 1,620 citations

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

1973 • 506 citations

Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

1988 • 306 citations

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.

1987 • 172 citations

Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport.

1984 • 170 citations

Carnitine metabolism and deficiency syndromes.

1983 • 159 citations

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 • 133 citations

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

1987 • 51 citations

In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency

1980 • 23 citations

Familial Systemic Carnitine Deficiency

1985 • 23 citations

Familial Systemic Carnitine Deficiency

1984 • 21 citations

Beta‐oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency

1985 • 12 citations