Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency—diagnosis, plasma carnitine fractions and management in a further patient

A comparison of [9,10‐³H]palmitic and [9,10‐³H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1989 • 153 citations

Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver

1980 • 136 citations

Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

1990 • 122 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ‐oxidation

1990 • 121 citations

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1985 • 111 citations

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

1991 • 110 citations

Hypoglycemia, Hepatic Dysfunction, Muscle Weakness, Cardiomyopathy, Free Carnitine Deficiency and Long-Chain Acylcarnitine Excess Responsive to Medium Chain Triglyceride Diet

1983 • 81 citations

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1991 • 76 citations

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1991 • 70 citations

Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects

1991 • 70 citations

Systemic carnitine deficiency

1978 • 58 citations

The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria

1982 • 56 citations

Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.

1988 • 54 citations

The L-3-hydroxyacyl-CoA dehydrogenase deficiency.

1990 • 52 citations

The Laboratory Diagnosis of Inborn Errors of Mitochondrial Fatty Acid Oxidation

1990 • 45 citations

3-hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis.

1980 • 44 citations

3-hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis.

1980 • 44 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

1991 • 40 citations

Effects of ciprofibrate and 2-[5-(4-chlorophenyl)pentyl]oxirane-2-carboxylate (POCA) on the distribution of carnitine and CoA and their acyl-esters and on enzyme activities in rats. Relation between hepatic carnitine concentration and carnitine acetyltransferase activity

1988 • 39 citations

The use of phenylpropionic acid as a loading test for medium‐chain acyl‐CoA dehydrogenase deficiency

1988 • 30 citations

Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination

1983 • 26 citations

Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria.

1990 • 22 citations

Possible deleterious effect of<scp>L</scp>‐carnitine supplementation in a patient with mild multiple acyl‐CoA dehydrogenation deficiency (ethylmalonic‐adipic aciduria)

1990 • 15 citations

Urinary C6–C12 dicarboxylic acylcarnitines in Reye's syndrome

1988 • 13 citations

Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl‐coa dehydrogenase deficiency

1990 • 6 citations

Studies on abnormal metabolic function in Reye's syndrome

1987 • 6 citations

170 NEUROMUSCOLAR INVOLVMENT IN TWO UNRELATED CHELDHEN WTIH LONG-CHAIN 3-HYDROXYACYL-CoA DHEYDHOGENASE (LCHAD) DEFICIENCY

1990 • 4 citations