Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Cloning and characterization of chi-1: a developmentally regulated member of a novel class of the ionotropic glutamate receptor family

1995 • 1,252 citations

Tandem Mass Spectrometry

2008 • 659 citations

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

1990 • 552 citations

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1973 • 476 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

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

1995 • 334 citations

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

1999 • 288 citations

Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

1994 • 274 citations

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

1997 • 272 citations

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

1997 • 271 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

An acyl-coenzyme a dehydrogenase assay utilizing the ferricenium ion

1990 • 217 citations

Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme.

1985 • 217 citations

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

1995 • 217 citations

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1988 • 211 citations

A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway

1977 • 210 citations

Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia

1985 • 203 citations

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

1983 • 202 citations

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

1991 • 200 citations

The Presence of a New 3‐Oxoacyl‐CoA Thiolase in Rat Liver Peroxisomes

1980 • 196 citations

ON THE MECHANISM OF DEHYDROGENATION OF FATTY ACYL DERIVATIVES OF COENZYME A

1956 • 188 citations

Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase.

1983 • 171 citations

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

1987 • 170 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 basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

1995 • 167 citations

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

1990 • 166 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

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

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

1995 • 157 citations

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

1992 • 154 citations

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

1998 • 154 citations

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

A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase

1993 • 150 citations

Properties of Mitochondrial and Peroxisomal Enoyl-CoA Hydratases from Rat Liver1

1980 • 150 citations

Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1992 • 145 citations

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

1999 • 141 citations

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

1980 • 136 citations

Degradation of Unsaturated Fatty Acids. Identification of Intermediates in the Degradation of cis-4-Decenoyl-CoA by Extracts of Beef-Liver Mitochondria

1978 • 135 citations

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

1997 • 134 citations

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

1984 • 133 citations

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

1988 • 131 citations

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

1998 • 130 citations

Enhancement of long-chain acyl-CoA hydrolase activity in peroxisomes and mitochondria of rat liver by peroxisomal proliferators

1984 • 128 citations

Combined enzyme defect of mitochondrial fatty acid oxidation.

1992 • 128 citations

Purification and Characterization of an alpha-Methylacyl-CoA Racemase from Human Liver

1995 • 127 citations

Purification and Properties of Rat Liver Acyl-CoA Dehydrogenases and Electron Transfer Flavoprotein1

1981 • 125 citations

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

1990 • 122 citations

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1993 • 122 citations

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

1987 • 121 citations

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

1998 • 121 citations

Identification of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Three Patients Previously Diagnosed with Long-Chain Acyl-CoA Dehydrogenase Deficiency

1993 • 119 citations

Purification and properties of an α‐methylacyl‐CoA racemase from rat liver

1994 • 119 citations

Purification and characterization of isovaleryl coenzyme A dehydrogenase from rat liver mitochondria.

1983 • 117 citations

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

1985 • 116 citations

Purification and properties of a pig heart thiolase with broad chain length specificity and comparison of thiolases from pig heart and Escherichia coli.

1978 • 115 citations

Molecular cloning and nucleotide sequence of the HU-1 gene of Escherichia coli

1985 • 114 citations

The metabolism of phytanic acid and pristanic acid in man: A review

1998 • 113 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

Very long‐chain acyl coenzyme A dehydrogenase deficiency presenting with exercise‐induced myoglobinuria

1994 • 111 citations

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]

1996 • 111 citations

Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria.

1983 • 109 citations

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

1995 • 108 citations

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

1995 • 105 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

Evidence for Intermediate Channeling in Mitochondrial β -Oxidation

1995 • 103 citations

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

1996 • 102 citations

l-3-Hydroxyacyl Coenyzme A Dehydrogenase from Pig Heart Muscle

1973 • 102 citations

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

1995 • 102 citations

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

1988 • 102 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

Electron transfer flavoprotein-ubiquinone oxidoreductase from pig liver: purification and molecular, redox, and catalytic properties

1985 • 95 citations

Structural Analysis of cDNAs for Subunits of Human Mitochondrial Fatty Acid β-Oxidation Trifunctional Protein

1994 • 94 citations

NADPH-dependent beta-oxidation of unsaturated fatty acids with double bonds extending from odd-numbered carbon atoms.

1992 • 93 citations

Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues.

1977 • 90 citations

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

1990 • 89 citations

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

1991 • 89 citations

Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.

1993 • 88 citations

Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Successful Treatment of Acute Cardiomyopathy

1996 • 88 citations

The occurrence of diastereomers of phytanic and pristanic acids and their determination by gas‐liquid chromatography

1967 • 84 citations

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

1999 • 84 citations

Short‐chain<scp>L</scp>‐3‐hydroxyacyl‐CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

1991 • 84 citations

Short-chain acyl–CoA dehydrogenase deficiency

1999 • 83 citations

Two Mitochondrial 3-Hydroxyacyl-CoA Dehydrogenases in Bovine Liver

1996 • 82 citations

Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme

1995 • 82 citations

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

1983 • 81 citations

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency.

1989 • 80 citations

Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation

1996 • 80 citations

Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein.

1994 • 79 citations

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

1998 • 77 citations

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.

1990 • 77 citations

Long Chain Enoyl Coenzyme A Hydratase from Pig Heart

1974 • 77 citations

Molecular cloning and sequence analysis of the cDNA for rat mitochondrial enoyl‐CoA hydratase

1989 • 76 citations

cDNA-derived amino acid sequence of rat mitochondrial 3-oxoacyl-CoA thiolase with no transient presequence: structural relationship with peroxisomal isozyme.

1987 • 75 citations

Delta 3,delta 2-enoyl-CoA isomerases. Characterization of the mitochondrial isoenzyme in the rat.

1990 • 72 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

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

1991 • 70 citations

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

1990 • 69 citations

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

1995 • 69 citations

Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect

1996 • 67 citations

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.

1995 • 67 citations

Medium Chain 3-Ketoacyl-Coenzyme A Thiolase Deficiency: A New Disorder of Mitochondrial Fatty Acid β-Oxidation

1997 • 66 citations

Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene Family

1994 • 66 citations

Very long chain acyl‐coenzyme A dehydrogenase deficiency with adult onset

1998 • 65 citations

Amino acid sequence similarities of the mitochondrial short chain delta 3, delta 2-enoyl-CoA isomerase and peroxisomal multifunctional delta 3, delta 2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase enzyme in rat liver. The proposed occurrence of isomerization and hydration in the same catalytic domain of the multifunctional enzyme

1991 • 63 citations

Improved detection of long‐chain fatty acid oxidation defects in intact cells using [9,10‐3H]oleic acid

1997 • 61 citations

Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2

1991 • 59 citations

Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders

1995 • 59 citations

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

1996 • 58 citations

Human Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: Cloning and Characterization of the Coding Sequence

1996 • 57 citations

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency

1997 • 57 citations

Measurement of the acyl-CoA intermediates of β-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria

1989 • 56 citations

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

1982 • 56 citations

NADPH-dependent reductive metabolism of cis-5 unsaturated fatty acids. A revised pathway for the beta-oxidation of oleic acid

1991 • 54 citations

Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

1996 • 53 citations

Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy

1989 • 53 citations

Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

1991 • 53 citations

A spectrophotometric procedure for rapid and sensitive measurements of β-oxidation. Demonstration of factors that can be rate-limiting for β-oxidation

1977 • 52 citations

Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver

1998 • 51 citations

Amino acid sequence of L‐3‐hydroxyacyl CoA dehydrogenase from pig heart muscle

1980 • 51 citations

Molecular Cloning and Nucleotide Sequence of cDNA Encoding the Entire Precursor of Rat Mitochondrial Acetoacetyl-CoA Thiolase1

1989 • 51 citations

Rapid Degradation of Short-chain Acyl-CoA Dehydrogenase Variants with Temperature-sensitive Folding Defects Occurs after Import into Mitochondria

1998 • 49 citations

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

1993 • 48 citations

2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation

1998 • 47 citations

Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine Metabolism

1995 • 46 citations

Peroxisomes Contain Δ3,5,Δ2,4-Dienoyl-CoA Isomerase and thus Possess All Enzymes Required for the β-Oxidation of Unsaturated Fatty Acids by a Novel Reductase-Dependent Pathway

1995 • 44 citations

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

1995 • 44 citations

Differential diagnosis of hydroxydicarboxylic aciduria based on release of³H₂O from [9,10‐³H]myristic and [9,10‐³H]palmitic acids by intact cultured fibroblasts

1992 • 44 citations

Delta 3,5, delta 2,4-dienoyl-CoA isomerase from rat liver mitochondria. Purification and characterization of a new enzyme involved in the beta-oxidation of unsaturated fatty acids.

1994 • 44 citations

Intramitochondrial localization of palmityl-CoA dehydrogenase, β-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase in guinea-pig heart

1971 • 43 citations

Molecular Cloning and Sequence Analysis of the cDNA for Human Mitochondrial Short-Chain Enoyl-CoA Hydratase

1993 • 42 citations

Divergent sequences in the 5′ region of cDNA suggest alternative splicing as a mechanism for the generation of carnitine acetyltransferases with different subcellular localizations

1994 • 42 citations

Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase

1994 • 40 citations

The long-chain acyl-CoA dehydrogenase deficiency.

1990 • 38 citations

Assay of l-3-hydroxyacyl-coenzyme A dehydrogenase with substrates of different chain lengths

1989 • 38 citations

Stereochemistry of Peroxisomal and Mitochondrial β‐oxidation of α‐methylacyl‐CoAs

1997 • 37 citations

The Genes for the α and β Subunits of the Mitochondrial Trifunctional Protein Are Both Located in the Same Region of Human Chromosome 2p23

1996 • 37 citations

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

1998 • 36 citations

Purification by Affinity Chromatography of 2,4-Dienoyl-CoA Reductases from Bovine Liver and Escherichia coli

1982 • 36 citations

Mitochondrial 3-2trans-Enoyl-CoA Isomerase. Purification, Cloning, Expression, and Mitochondrial Import of the Key Enzyme of Unsaturated Fatty acidβ-Oxidation

1991 • 35 citations

Isolation and Characterization of Rat and Human cDNAs Encoding a Novel Putative Peroxisomal Enoyl-CoA Hydratase

1995 • 34 citations

cDNA cloning of rat liver 2,4-dienoyl-CoA reductase

1990 • 33 citations

Mitochondrial β-Oxidation of 2-Methyl Fatty Acids in Rat Liver

1995 • 33 citations

Molecular cloning of cDNA species for rat and mouse liver α-methylacyl-CoA racemases

1997 • 33 citations

Purification and Mechanism of .DELTA.3,.DELTA.5-t-2,t-4-Dienoyl-CoA Isomerase from Rat Liver

1994 • 32 citations

Cloning of a cDNA for Short/Branched Chain Acyl-Coenzyme A Dehydrogenase from Rat and Characterization of Its Tissue Expression and Substrate Specificity

1996 • 32 citations

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method

1993 • 32 citations

Occurrence of a long-chain Δ3,Δ2-enoyl-CoA isomerase in rat liver

1990 • 31 citations

Short‐chain acyl‐CoA dehydrogenase deficiency in a 16‐year‐old girl with severe muscle wasting and scoliosis

1997 • 31 citations

Purification and Characterization of the Trifunctional β-Oxidation Complex from Pig Heart Mitochondria

1993 • 31 citations

Purification and Properties of 3-cis-2-trans-Enoyl-CoA Isomerase (Dodecenoyl-CoA Δ-Isomerase) from Rat Liver Mitochondria

1978 • 29 citations

The existence of two mitochondrial isoforms of 2,4‐dienoyl‐CoA reductase in the rat

1993 • 29 citations

Structural organization of the human short-chain l -3-hydroxyacyl-CoA dehydrogenase gene HADHSC pseudogene sequence, AF026868.--&gt;

1998 • 28 citations

Diagnosis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Lymphocytes and Liver by a Gas Chromatographic Method: The Effect of Oral Riboflavin Supplementation

1992 • 28 citations

Short-Chain Acyl-Coenzyme A Dehydrogenase Activity, Antigen, and Biosynthesis Are Absent in the BALB/cByJ Mouse

1992 • 26 citations

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

1995 • 25 citations

Cloning and sequence analysis of a full length cDNA encoding human mitochodrial 3-oxoacyl-CoA thiolase

1993 • 24 citations

Immunochemical Characterization of Variant Long-Chain Acyl-CoA Dehydrogenase in Cultured Fibroblasts from Nine Patients with Long-Chain Acyl-CoA Dehydrogenase Deficiency

1991 • 24 citations

Purification and Characterization of an alpha-Methylacyl-CoA Racemase from Human Liver

1995 • 24 citations

Immunochemical Characterization of Variant Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts from Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1992 • 23 citations

Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management

1997 • 21 citations

Mitochondropathy presenting with non‐ketotic hypoglycaemia as 3‐hydroxydicarboxylic aciduria

1995 • 19 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

Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders

1998 • 18 citations

Mitochondrial very long‐chain acyl‐CoA dehydrogenase deficiency with a mild clinical course

1996 • 16 citations

A Simple Spectrophotometric Assay for Long-Chain Acyl-CoA Dehydrogenase Activity Measurements in Human Skin Fibroblasts

1993 • 16 citations

Purification and Characterization of Bovine Liver.3-cis-2-trans-Enoyl-CoAIsomerase

1990 • 14 citations

Evidence of two catalytically active carnitine medium/long chain acyltransferases in rat liver peroxisomes

1996 • 14 citations

Ketonuria and medium‐chain acyl‐CoA dehydrogenase deficiency

1995 • 12 citations

cDNA cloning of mitochondrial Δ3, Δ2-enoyl-CoA isomerase of rat liver

1992 • 11 citations

Crystallographic studies of 3-ketoacylCoA thiolase from yeast Saccharomyces cerevisiae

1990 • 10 citations

Measurement of short-chain acyl-CoA dehydrogenase (SCAD) in cultured skin fibroblasts with hexanoyl-CoA as a competitive inhibitor to eliminate the contribution of medium-chain acyl-CoA dehydrogenase

1994 • 8 citations

Molecular cloning of cDNA for rat mitochondrial 3-oxoacyl-CoA thiolase

1986 • 7 citations

Measurement of acyl‐CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets

1991 • 6 citations

A simple, straightforward assay for long‐chain 3‐hydroxyacyl‐CoA dehydrogenase based on the use ofN‐ethylmaleimide: Potential for pre‐ and postnatal diagnosis

1993 • 6 citations

A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS

1992 • 5 citations

Hypoketonuric 3‐hydroxydicarboxylic aciduria in five patients with glycogen storage disease

1997 • 4 citations

Fatty acid oxidation in soluble systems of mammalian origin: the beginnings.

1990 • 4 citations