Published in Int J Biochem on January 01, 1979
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
Cellular migration of intestinal epithelia in suckling and weaned rats. Nature (1966) 1.84
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
Uridine diphosphoglucose content of human erythrocytes: assessment by conversion to uridine diphosphoglucuronate. J Pediatr (1993) 1.59
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
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
Plasma exchange in myasthenia gravis. Lancet (1977) 1.23
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
Experimental visceral aspergillosis. Am J Pathol (1972) 1.19
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome. J Clin Invest (1988) 1.16
Cardiovascular risk factor prevention in black schoolchildren: two-year results of the "Know Your Body" program. Am J Epidemiol (1989) 1.14
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology (1987) 1.11
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat (1992) 1.07
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
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis (2001) 1.01
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. Eur J Pediatr (1990) 1.01
Single radial immunodiffusion method for screening Staphylococcal isolates for enterotoxin. Appl Environ Microbiol (1980) 1.00
Increased activity of rat intestinal lactase due to increased intake of alpha-saccharides (starch, sucrose) in isocaloric diets. J Nutr (1981) 0.98
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
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
Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med (1991) 0.91
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
Nutrient absorption in the preterm neonate. Clin Perinatol (1996) 0.87
Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis. Atherosclerosis (1986) 0.85
Extracellular endo-beta-1,4-glucanase in Cellvibrio vulgaris. Appl Environ Microbiol (1978) 0.85
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Pediatr Res (2000) 0.84
Neonatal presentation of I-cell disease. J Pediatr (1978) 0.84
Time- and dose-dependency of intestinal lactase activity in adult rat on starch intake. Biochim Biophys Acta (1981) 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
The long-chain acyl-CoA dehydrogenase deficiency. Prog Clin Biol Res (1990) 0.84
Prevalence and expression of familial combined hyperlipidemia in childhood. J Pediatr (1990) 0.83
31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: comparison with HPLC and enzymatic methods. Anal Biochem (1992) 0.83
Development of luminal protein digestion: implications for biologically active dietary polypeptides. J Pediatr Gastroenterol Nutr (1989) 0.82
Hormones in milk. Life Sci (1980) 0.82
Assessment of lactose absorption by measurement of urinary galactose. Gastroenterology (1989) 0.81
Excessive proneness of Jews to ischemic heart and bowel diseases. Am Heart J (1980) 0.81
Thyroxine-evoked decrease of jejunal lactase activity in adult rats. Gastroenterology (1977) 0.81
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
Effect of the host hormonal status on development of sucrase and acid beta-galactosidase in isografts of rat small intestine. J Endocrinol (1977) 0.81
Ionic basis of volume regulation in mammalian cells following osmotic shock. J Cell Physiol (1973) 0.81
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
Postnatal changes of -galactosidase activity in the small intestine of the rat. Biol Neonate (1972) 0.80
Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet (1987) 0.80
Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia. Genet Epidemiol (1993) 0.80
Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Metabolism (1992) 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
Characteristics and postnatal development of the acid lipase activity of the rat small intestine. Biochem J (1977) 0.79
Prenatal induction of sucrase activity in rat jejunum. Biochem J (1977) 0.79
Synthesis and degradation of microvillar protein of kidney in adult rats. FEBS Lett (1974) 0.79
Acid and neutral lipases of cultured adipocytes of infants and children. Pediatr Res (1978) 0.79
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. J Pediatr (1992) 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
Milk carnitine affects organ carnitine concentration in newborn rats. J Nutr (1996) 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
Uptake of proline in cultured cells from patients with Lowe's syndrome. Biochem Biophys Res Commun (1982) 0.79
Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome. J Inherit Metab Dis (1985) 0.79
Gene polymorphisms and variability of human apolipoproteins. Annu Rev Nutr (1989) 0.78
A genetic defect in carnitine transport causing primary carnitine deficiency. Prog Clin Biol Res (1990) 0.78
Genetic defects of acyl-CoA dehydrogenases: studies using an electron transfer flavoprotein reduction assay. Prog Clin Biol Res (1990) 0.78
Neutral and acid lipase of mouse 3T3 fibroblasts with increased adipose conversion. Cell Differ (1977) 0.78
Systemic carnitine deficiency simulating Reye syndrome. J Pediatr (1984) 0.78
Diet, age and intestinal bile acids in pigs. Nutrition (1993) 0.78
Nongenetic influences of obesity on risk factors for cardiovascular disease during two phases of development. Nurs Res (1995) 0.78
Intestinal disaccharidases of young turkeys: temporal development and influence of diet composition. Poult Sci (1989) 0.78
Effect of diabetes and insulin therapy on human mononuclear leukocyte lysosomal acid lipase activity. Metabolism (1984) 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
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
Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation. Am J Clin Nutr (1996) 0.77
Cardiovascular risk factors among black schoolchildren: comparisons among four Know Your Body studies. Prev Med (1989) 0.77
Genetic and environmental influences on cardiovascular disease risk factors in adolescents. Nurs Res (1998) 0.77
Determinants of fasting plasma triglyceride levels: metabolism of hepatic and intestinal lipoproteins. Eur J Clin Invest (1992) 0.77
Sex differences in serum levels of N-acetyl-beta-hexosaminidase in infancy: correlation of enzyme activity with testosterone levels. Early Hum Dev (1980) 0.77
Effect of milk on somatostatin degradation in suckling rat jejunum in vivo. J Pediatr Gastroenterol Nutr (1999) 0.77
Milk-borne epidermal growth factor modulates intestinal transforming growth factor-alpha levels in neonatal rats. Pediatr Res (2000) 0.77