Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1990 • 552 citations

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1988 • 211 citations

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine Levels

1983 • 202 citations

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1982 • 168 citations

Molecular Cloning and Nucleotide Sequence of cDNAs Encoding the Precursors of Rat Long Chain Acyl-Coenzyme A, Short Chain Acyl-Coenzyme A, and Isovaleryl-Coenzyme A Dehydrogenases

1989 • 160 citations

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1986 • 148 citations

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening

1989 • 144 citations

Disease Diagnosis by Recombinant DNA Methods

1987 • 135 citations

Specific Synthesis of DNA in Vitro via a Polymerase-Catalyzed Chain Reaction

1989 • 133 citations

Diagnostic and Therapeutic Implications of Medium-Chain Acylcarnitines in the Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1985 • 129 citations

Defects of metabolism of fatty acids in the sudden infant death syndrome.

1985 • 122 citations

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.

1987 • 121 citations

Sudden Child Death and `Healthy' Affected Family Members With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

1986 • 119 citations

Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes

1985 • 116 citations

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1991 • 114 citations

Dicarboxylic Aciduria: Deficient [1- ¹⁴ C]Octanoate Oxidation and Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts

1983 • 112 citations

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

1985 • 111 citations

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical, pathologic and ultrastructural differentiation from Reye's syndrome

1986 • 111 citations

Pulse oximetry for continuous oxygen monitoring in sick newborn infants

1986 • 111 citations

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1990 • 108 citations

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

1990 • 99 citations

INVESTIGATION OF INBORN ERRORS OF METABOLISM IN UNEXPECTED INFANT DEATHS

1988 • 96 citations

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1983 • 93 citations

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

1990 • 89 citations

Fatty acid oxidation : clinical biochemical, and molecular aspects

1989 • 84 citations

AMPLIFICATION REFRACTORY MUTATION SYSTEM FOR PRENATAL DIAGNOSIS AND CARRIER ASSESSMENT IN CYSTIC FIBROSIS

1989 • 79 citations

Structure of the medium-chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution.

1988 • 77 citations

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome.

1984 • 77 citations

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase.

1987 • 73 citations

Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.

1986 • 72 citations

Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: In vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells

1987 • 57 citations

Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

1987 • 52 citations

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome

1985 • 51 citations

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

1985 • 47 citations

Sex hormone-binding globulin—still many questions

1985 • 46 citations

Biosynthesis of Variant Medium Chain Acyl-CoA Dehydrogenase in Cultured Fibroblasts from Patients with Medium Chain Acyl-CoA Dehydrogenase Deficiency

1986 • 43 citations

The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.

1985 • 40 citations

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

1990 • 35 citations

Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver

1988 • 34 citations

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency

1987 • 27 citations

The incidence and presentation of dicarboxylic aciduria

1987 • 25 citations

Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: Effect of metabolic state and l-carnitine therapy

1989 • 23 citations

Analysis of abnormal urinary metabolites in the newborn period in medium‐chain acyl‐CoA dehydrogenase deficiency

1989 • 23 citations

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

1985 • 19 citations

The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic

1990 • 19 citations

Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome

1990 • 18 citations

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

1990 • 14 citations

Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death

1990 • 8 citations

The detection of abnormal metabolites in MCAD deficiency: a new method

1990 • 7 citations

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

1990 • 6 citations

Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction

1990 • 2 citations