A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome)

1993 • 1,078 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

Liver Disease in Pregnancy

1996 • 266 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

Acute fatty liver of pregnancy: a clinical study of 12 episodes in 11 patients.

1994 • 175 citations

Acute fatty liver of pregnancy: An experience in the diagnosis and management of fourteen cases

1994 • 173 citations

Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

1996 • 160 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

Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1998 • 142 citations

Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

1996 • 135 citations

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

1997 • 134 citations

Combined enzyme defect of mitochondrial fatty acid oxidation.

1992 • 128 citations

Acute Fatty Liver of Pregnancy

1987 • 114 citations

Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring

1991 • 112 citations

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

1991 • 110 citations

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

1996 • 105 citations

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

1995 • 102 citations

Ophthalmologic findings in long-chain 3-hydroxyacyl-Coa dehydrogenase deficiency caused by the G1528C mutation

1998 • 99 citations

Maternal Acute Fatty Liver of Pregnancy Associated with Fetal Trifunctional Protein Deficiency: Molecular Characterization of a Novel Maternal Mutant Allele

1996 • 78 citations

Decreased mitochondrial oxidation of fatty acids in pregnant mice: Possible relevance to development of acute fatty liver of pregnancy

1993 • 76 citations

Clinical and biochemical features of fatty acid oxidation disorders

1998 • 75 citations

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

1991 • 70 citations

The Laboratory Diagnosis of Inborn Errors of Mitochondrial Fatty Acid Oxidation

1990 • 45 citations

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

1995 • 27 citations

First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk

1993 • 14 citations