Published in J Inherit Metab Dis on January 01, 1984
The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis (1987) 1.00
Riboflavin-responsive defects of beta-oxidation. J Inherit Metab Dis (1985) 0.80
Rat liver peroxisomes catalyze the beta oxidation of fatty acids. J Biol Chem (1978) 2.84
Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase. J Biol Chem (1983) 1.94
A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway. J Biol Chem (1977) 1.93
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
Purification and characterization of isovaleryl coenzyme A dehydrogenase from rat liver mitochondria. J Biol Chem (1983) 1.56
Purification and properties of rat liver acyl-CoA dehydrogenases and electron transfer flavoprotein. J Biochem (1981) 1.48
The purification and some properties of electron transfer flavoprotein and general fatty acyl coenzyme A dehydrogenase from pig liver mitochondria. J Biol Chem (1975) 1.43
Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts. Science (1983) 1.33
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases. Clin Chim Acta (1983) 1.30
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta (1982) 1.29
Fatty acid oxidation by human liver peroxisomes. Biochem Biophys Res Commun (1979) 1.18
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. Proc Natl Acad Sci U S A (1980) 1.12
Dicarboxylic aciduria: the response to fasting. Clin Chim Acta (1979) 1.05
Mammalian metabolism of glutaric acid. J Biol Chem (1969) 1.04
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chim Acta (1976) 1.03
The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta (1982) 0.98
Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts. Pediatr Res (1980) 0.95
The biological origin of ketotic dicarboxylic aciduria. In vivo and in vitro investigations of the omega-oxidation of C6-C16-monocarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta (1981) 0.95
Novel tritium release assays for isovaleryl-CoA and butyryl-CoA dehydrogenases. J Biol Chem (1981) 0.94
Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood. Acta Paediatr Scand (1983) 0.93
Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases. Clin Chim Acta (1980) 0.93
Cyanide-insensitive and clofibrate enhanced beta-oxidation of dodecanedioic acid in rat liver. An indication of peroxisomal beta-oxidation of N-dicarboxylic acids. Biochim Biophys Acta (1982) 0.91
Acyl-CoA dehydrogenases from pig liver mitochondria. Methods Enzymol (1981) 0.85
Episodic hypoglycemia with psi-hydroxy fatty acid excretion. Pediatr Res (1983) 0.82
Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia. Biomed Mass Spectrom (1980) 0.80
Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids. J Inherit Metab Dis (1980) 0.78
The absolute configuration of urinary 5-hydroxyhexanoic acid - a product of fatty acid (omega-1)-oxidation - in patients with non-ketotic dicarboxylic aciduria. Clin Chim Acta (1982) 0.77
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet (1999) 1.99
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab (2008) 1.73
Oligonucleotide-priming methods for the chromosome-specific labelling of alpha satellite DNA in situ. Chromosoma (1989) 1.66
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest (1999) 1.64
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res (1995) 1.49
Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics (2007) 1.49
Protein misfolding and degradation in genetic diseases. Hum Mutat (1999) 1.46
Detection of alpha 1-antitrypsin genotypes by analysis of amplified DNA sequences. Nucleic Acids Res (1988) 1.45
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet (1997) 1.36
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases. Clin Chim Acta (1983) 1.30
Frequency of the G985 MCAD mutation in the general population. Lancet (1991) 1.30
In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta (1982) 1.29
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab (2006) 1.29
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. Proc Natl Acad Sci U S A (1990) 1.28
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. Hum Mol Genet (1996) 1.17
Studies on the effects of saturated and unsaturated short-chain monocarboxylic acids on the energy metabolism of rat liver mitochondria. Pediatr Res (1979) 1.17
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res (1982) 1.14
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (2001) 1.13
Acyl-CoA-binding protein/diazepam-binding inhibitor gene and pseudogenes. A typical housekeeping gene family. J Mol Biol (1992) 1.09
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat (1992) 1.07
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chim Acta (1976) 1.03
Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. Biochim Biophys Acta (1993) 1.02
The specific inhibition of the pyruvate dehydrogenase complex from pig kidney by propionyl-CoA and isovaleryl-Co-A. Biochem Med (1981) 1.02
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet (1996) 1.02
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol (1998) 1.01
The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis (1987) 1.00
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). Neuroscience (2008) 0.98
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome. J Pediatr (1985) 0.98
Low molecular weight organic acids in the urine of the newborn. Acta Paediatr Scand (1977) 0.98
The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta (1982) 0.98
Glutaric aciduria in progressive choreo-athetosis. Clin Genet (1978) 0.96
Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels. J Biol Chem (1996) 0.96
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis (2005) 0.95
Medium-chain triglyceride medication as a pitfall in the diagnosis of non-ketotic C6-C10-dicarboxylic acidurias. Clin Chim Acta (1980) 0.95
The biological origin of ketotic dicarboxylic aciduria. In vivo and in vitro investigations of the omega-oxidation of C6-C16-monocarboxylic acids in unstarved, starved and diabetic rats. Biochim Biophys Acta (1981) 0.95
Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene. Clin Chem (1992) 0.95
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. J Inherit Metab Dis (1980) 0.94
Glutaric aciduria: clinical and laboratory findings in two brothers. J Pediatr (1977) 0.94
Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mamm Genome (1997) 0.94
DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia. Clin Genet (1991) 0.94
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum. J Biol Chem (2000) 0.94
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1999) 0.94
Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr (1979) 0.94
Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood. Acta Paediatr Scand (1983) 0.93
Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases. Clin Chim Acta (1980) 0.93
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. J Med Genet (2004) 0.92
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin Chem (1996) 0.92
A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localization. Biochem J (1998) 0.92
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab (1999) 0.92
The occurrence of C6--C10-dicarboxylic acids in urine from patients and rats treated with dipropylacetate. Biochem Med (1980) 0.91
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr (2001) 0.91
Cyanide-insensitive and clofibrate enhanced beta-oxidation of dodecanedioic acid in rat liver. An indication of peroxisomal beta-oxidation of N-dicarboxylic acids. Biochim Biophys Acta (1982) 0.91
Bloch-wave engineering of quantum dot micropillars for cavity quantum electrodynamics experiments. Phys Rev Lett (2012) 0.90
Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. J Biol Chem (1998) 0.90
Detection of clonal B cells in microdissected reactive lymphoproliferations: possible diagnostic pitfalls in PCR analysis of immunoglobulin heavy chain gene rearrangement. Mol Pathol (1999) 0.90
In vitro studies on the oxidation of medium-chain dicarboxylic acids in rat liver. Biochim Biophys Acta (1986) 0.90
Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia. Clin Chim Acta (1981) 0.90
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis (2004) 0.90
Genotyping compared with protein phenotyping of the common apolipoprotein E polymorphism. Clin Chim Acta (1994) 0.89
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency. Prog Nucleic Acid Res Mol Biol (1998) 0.89
Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatr (2002) 0.89
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1996) 0.89
Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia. Eur J Biochem (1991) 0.88
Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res (1991) 0.88
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol (1999) 0.88
Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab (2003) 0.87
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis (2003) 0.86
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat (2001) 0.86
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles. Prog Clin Biol Res (1992) 0.86
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population. Clin Genet (1991) 0.86
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis (1999) 0.86
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene. Hum Genet (1991) 0.86
Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells. Biochim Biophys Acta (1992) 0.86
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. Mol Genet Metab (2010) 0.86
Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver. Biochem Med Metab Biol (1986) 0.86
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. Scand J Clin Lab Invest Suppl (1985) 0.86
Serotonin depletion decreases serotonin transporter mRNA levels in rat brain. Brain Res (1995) 0.85
Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase. J Inherit Metab Dis (1995) 0.85
Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme. Eur J Biochem (1997) 0.85
Nonradioactive, sequence-specific detection of RNA in situ by primed in situ labeling (PRINS). Exp Cell Res (1991) 0.85
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats. Am J Hum Genet (1993) 0.84
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. J Med Genet (2001) 0.84
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. Hum Mutat (1995) 0.84
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia. Hum Mutat (1997) 0.83
Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Pediatr Res (1979) 0.83
Anti-inflammatory heat shock protein 70 genes are positively associated with human survival. Curr Pharm Des (2010) 0.83
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. Hum Mutat (1998) 0.83
Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene. FEBS Lett (1995) 0.83
Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. Acta Paediatr Scand (1986) 0.83
Polymorphisms in the apolipoprotein B-100 gene contributes to normal variation in plasma lipids in 464 Danish men born in 1948. Hum Genet (1993) 0.82
C6-C10-dicarboxylic aciduria: biochemical considerations in relation to diagnosis of beta-oxidation defects. Scand J Clin Lab Invest Suppl (1982) 0.82