The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1983 • 662 citations

Myology: Basic and Clinical.

1986 • 531 citations

β-Oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: A century of continued progress

1995 • 491 citations

Inborn Metabolic Diseases

2006 • 355 citations

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.

1992 • 337 citations

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.

1992 • 245 citations

Retinitis Pigmentosa

1987 • 236 citations

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

1995 • 217 citations

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

1993 • 214 citations

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.

1989 • 207 citations

Fatty acid oxidation disorders: A new class of metabolic diseases

1992 • 178 citations

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein

1994 • 158 citations

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1992 • 154 citations

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia

1980 • 144 citations

Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency

1994 • 143 citations

Combined enzyme defect of mitochondrial fatty acid oxidation.

1992 • 128 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

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

1991 • 110 citations

INVESTIGATION OF INBORN ERRORS OF METABOLISM IN UNEXPECTED INFANT DEATHS

1988 • 96 citations

Fatty acid oxidation : clinical biochemical, and molecular aspects

1989 • 84 citations

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

1983 • 81 citations

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

1994 • 80 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

3-hydroxydicarboxylic aciduria—a fatty acid oxidation defect with severe prognosis

1990 • 70 citations

Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects

1991 • 70 citations

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

1992 • 61 citations

Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency,

1994 • 49 citations

Disorders of Fatty Acid Oxidation

1995 • 41 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

1991 • 40 citations

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C₆–C₁₄ hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

1988 • 39 citations

3-Hydroxyoctanoic aciduria: Identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia

1988 • 36 citations

3‐Hydroxydicarboxylic aciduria: A distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance

1987 • 34 citations

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

1994 • 34 citations

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

1993 • 27 citations

A New Case of C6–C14 Dicarboxylic Aciduria with Favourable Evolution

1986 • 27 citations

A new case of C₆–C₁₄ dicarboxylic aciduria with favourable evolution

1986 • 27 citations

Clinical and neurophysiologic response of myopathy and neuropathy in long-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone

1995 • 27 citations

β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria

1994 • 24 citations

Inborn Metabolic Diseases

1990 • 23 citations

Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria.

1990 • 22 citations

Long‐chain 3‐hydroxyacyl‐Coenzyme A dehydrogenase (L‐CHAD) deficiency in a patient with the Bannayan‐Riley‐Ruvalcaba syndrome

1994 • 22 citations

Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome

1993 • 21 citations

Mitochondrial Fatty Acid Oxidation Disorders

2022 • 19 citations

Fatal outcome in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

1992 • 15 citations

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: Potential for pre‐ and postnatal diagnosis

1992 • 8 citations