Published in Pediatr Res on January 01, 1978
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. Lancet (1990) 1.82
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res (1985) 1.75
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res (1985) 1.56
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. J Clin Invest (1990) 1.51
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med (1988) 1.49
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (1993) 1.46
Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol (1992) 1.41
Age-related changes in cardiovascular disease risk factors of hypercholesterolemic children. J Pediatr (1998) 1.40
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet (1991) 1.38
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol (1991) 1.33
Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency. Pediatr Res (1986) 1.28
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun (1990) 1.27
Genetic variant of human erythrocyte malate dehydrogenase. Nature (1967) 1.24
Plasma exchange in myasthenia gravis. Lancet (1977) 1.23
Genetic polymorphisms of human mitochondrial glutamic oxaloacetic transaminase. Science (1970) 1.21
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med (1988) 1.19
Genetic variation of lysosomal acid lipase. Pediatr Res (1976) 1.19
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome. J Clin Invest (1988) 1.16
Artificial vs breast feeding: relation to infant health in a middle class American community. Clin Pediatr (Phila) (1972) 1.12
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology (1987) 1.11
Patients and prescriptions. Comprehension and compliance with medical instructions in a suburban pediatric practice. Clin Pediatr (Phila) (1970) 1.11
Mitochondrial malate dehydrogenase: a new genetic polymorphism in man. Science (1967) 1.10
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat (1992) 1.07
Reduction of elevated LDL-cholesterol levels of 4- to 10-year-old children through home-based dietary education. Pediatrics (1994) 1.06
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A (1994) 1.04
Direct measurement of apolipoprotein B synthesis in human very low density lipoprotein using stable isotopes and mass spectrometry. J Lipid Res (1986) 1.04
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. Eur J Pediatr (1990) 1.01
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (1991) 0.98
Studies on human adipose cells in culture: relation of cell size and multiplication to donor age. Yale J Biol Med (1975) 0.97
Acid lipase activity of human lymphocytes. Biochim Biophys Acta (1979) 0.96
Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. J Pediatr (1993) 0.96
Kinetics of chylomicron remnant clearance in normal and in hyperlipoproteinemic subjects. J Lipid Res (1987) 0.95
A preliminary genetic interpretation of the esterase isozymes of human tissues. Ann Hum Genet (1975) 0.95
Effect of early nutrition on serum cholesterol levels in adult rats challenged with high fat diet. J Nutr (1983) 0.91
The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol Res (1990) 0.90
Genetic variation in human erythrocyte acetylcholinesterase. Science (1972) 0.89
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death. Lancet (1987) 0.89
Separation and further characterization of human adipose tissue neutral and alkaline lipolytic activities. J Biol Chem (1967) 0.88
Monarticular arthritis: an unusual manifestation of infectious mononucleosis. Clin Pediatr (Phila) (1972) 0.86
Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis. Atherosclerosis (1986) 0.85
Subclinical lead burden: relation to hemoglobin and hematocrit values. Pa Med (1975) 0.84
Neonatal presentation of I-cell disease. J Pediatr (1978) 0.84
Familial combined hyperlipidaemia: use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver. J Inherit Metab Dis (1991) 0.84
Monolayer cultures of disaggregated human adipocytes. In Vitro (1975) 0.84
The long-chain acyl-CoA dehydrogenase deficiency. Prog Clin Biol Res (1990) 0.84
Hematologic status of urban black children in Philadelphia. Clin Pediatr (Phila) (1974) 0.83
Reducing the lead burden of urban ghetto children. Clin Pediatr (Phila) (1974) 0.83
Prevalence and expression of familial combined hyperlipidemia in childhood. J Pediatr (1990) 0.83
Primary exogenous obesity. A conceptual classification. Clin Pediatr (Phila) (1974) 0.83
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease. J Lipid Res (1995) 0.81
Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia. Genet Epidemiol (1993) 0.80
Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet (1987) 0.80
Prenatal diagnosis of Wolman disease. Am J Med Genet (1978) 0.80
Effects of family history of heart disease, apolipoprotein E phenotype, and lipoprotein(a) on the response of children's plasma lipids to change in dietary lipids. Am J Clin Nutr (1997) 0.80
Congenital dislocation of the hip--diagnostic screening and treatment. A comparative study of two populations of infants and children. Clin Pediatr (Phila) (1976) 0.80
Plasma-vitamin E and low plasma lipoprotein levels in sickle cell anemia patients. J Assoc Acad Minor Phys (1990) 0.80
Postmortem recognition of fatty acid oxidation disorders. Pediatr Pathol (1991) 0.80
Influence of dietary carbohydrates (alpha-saccharides) on hepatic drug metabolism in male rats. Drug Nutr Interact (1983) 0.79
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr (1992) 0.79
A quality assurance program for the measurement of capillary blood cholesterol levels in private pediatric practices. The Children's Health Project. Am J Dis Child (1993) 0.79
Characteristics and postnatal development of the acid lipase activity of the rat small intestine. Biochem J (1977) 0.79
Use of cholestyramine in the treatment of children with familial combined hyperlipidemia. J Pediatr (1993) 0.79
Purification and properties of an esterase B4 from human liver. Eur J Biochem (1976) 0.79
The development and implementation of quality assurance programs to support nutritional measurements. Anal Bioanal Chem (2013) 0.79
Kinetics of retinyl esters during postprandial lipemia in man: a compartmental model. Metabolism (1997) 0.79
Effect of thyroxine on acid lipase activity of adult rat liver. FEBS Lett (1978) 0.79
Preliminary report of a home-based education program for dietary treatment of hypercholesterolemia in children. Am J Health Promot (1994) 0.79
One-year follow-up of nutrition education for hypercholesterolemic children. Am J Public Health (1998) 0.78
Nongenetic influences of obesity on risk factors for cardiovascular disease during two phases of development. Nurs Res (1995) 0.78
Genetic defects of acyl-CoA dehydrogenases: studies using an electron transfer flavoprotein reduction assay. Prog Clin Biol Res (1990) 0.78
A genetic defect in carnitine transport causing primary carnitine deficiency. Prog Clin Biol Res (1990) 0.78
Systemic carnitine deficiency simulating Reye syndrome. J Pediatr (1984) 0.78
Dysplasia of the anterior abdominal musculature with multiple congenital anomalies. Prune belly or triad syndrome. J Natl Med Assoc (1973) 0.78
Gene polymorphisms and variability of human apolipoproteins. Annu Rev Nutr (1989) 0.78
Neutral and acid lipase of mouse 3T3 fibroblasts with increased adipose conversion. Cell Differ (1977) 0.78
Catechol effect on the lysosomal enzymes in the adipose tissues of obese and obese-diabetic monkeys. Int J Obes (1979) 0.77
The effect of lovastatin on very low-density lipoprotein apolipoprotein B production by the liver in familial combined hyperlipidaemia. J Inherit Metab Dis (1993) 0.77
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. J Med Genet (1994) 0.77
Genetic and environmental influences on cardiovascular disease risk factors in adolescents. Nurs Res (1998) 0.77
Effect of diabetes and insulin therapy on human mononuclear leukocyte lysosomal acid lipase activity. Metabolism (1984) 0.77
Determinants of fasting plasma triglyceride levels: metabolism of hepatic and intestinal lipoproteins. Eur J Clin Invest (1992) 0.77
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector. Biochim Biophys Acta (1979) 0.76
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1990) 0.76
Genetics or environment? Type A behavior and cardiovascular risk factors in twin children. Nurs Res (1988) 0.76